RGD:11660847 Rat Genome Database

Variant: RGD:11660847 - Homo sapiens

RGD ID:

11660847

RS ID:

rs886057319

ClinVar ID:

CV337679

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

HPS4

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	22	26,864,578
GRCh38	22	26,468,612

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_590t2:c.593C>T NM_152841.2:c.593C>T LRG_590:g.20252C>T NG_009763.2:g.20252C>T More...	01/13/2018	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

Hermansky-Pudlak syndrome 4 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	HPS4
Accession:	XM_011530496
Location:	5UTRS;EXON

Gene Symbol:	HPS4
Accession:	XM_011530490
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	229

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKSHGTWSDIKPPVSPWGLCFRRKVEDRVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVL LHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALK ENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHI PEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAP IPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAES CMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLL MANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSG KAKQKLLKHGVNLL*

Gene Symbol:	HPS4
Accession:	NM_001349901
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA TPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLK HGVNLL*

Gene Symbol:	HPS4
Accession:	NM_001349896
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:	HPS4
Accession:	XM_047441575
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAGTCSTELRLPKPSGWRLQPLRQSKAEAAEA RGELALNCTQEVTGKEKTSKGSSAFYN*

Gene Symbol:	HPS4
Accession:	XM_047441561
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA TPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLK HGVNLL*

Gene Symbol:	HPS4
Accession:	XM_047441578
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVSCTS*

Gene Symbol:	HPS4
Accession:	XM_047441579
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVSCTS*

Gene Symbol:	HPS4
Accession:	XM_047441574
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA TPQDRRFLQAVSLMHSEFAQLPALYEMTVSCTS*

Gene Symbol:	HPS4
Accession:	XM_047441583
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAGTCSTELRLPKPSGWRLQPLRQSKAEAAEARGELALNCTQEVTGKEKT SKGSSAFYN*

Gene Symbol:	HPS4
Accession:	XM_047441562
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA TPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLK HGVNLL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVRLPVTSCHIPLLSFTPSQSIQPPPVWRAD*

Gene Symbol:	HPS4
Accession:	NM_001349905
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVSCTS*

Gene Symbol:	HPS4
Accession:	NM_001349903
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAGTCSTELRLPKPSGWRLQPLRQSKAEAAEARGELALNCTQEVTGKEKT SKGSSAFYN*

Gene Symbol:	HPS4
Accession:	XM_047441572
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA TPQDRRFLQAVSLMHSEFAQLPALYEMTVSCTS*

Gene Symbol:	HPS4
Accession:	XM_047441580
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVSCTS*

Gene Symbol:	HPS4
Accession:	NM_152841
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIK VDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQ TKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQI IPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKEN GCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKAS LSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPT GEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDS AAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPA LYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:	HPS4
Accession:	NM_001349898
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:	HPS4
Accession:	XM_047441568
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVRLPVTSCHIPLLSFTPSQSIQPPPVWRAD*

Gene Symbol:	HPS4
Accession:	XM_047441567
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA TPQDRRFLQAVSLMHSEFAQLPALYEMTVRLPVTSCHIPLLSFTPSQSIQPPPVWRAD*

Gene Symbol:	HPS4
Accession:	NM_022081
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:	HPS4
Accession:	NM_001349899
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:	HPS4
Accession:	XM_047441564
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:	HPS4
Accession:	XM_047441569
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVRLPVTSCHIPLLSFTPSQSIQPPPVWRAD*

Gene Symbol:	HPS4
Accession:	XM_047441576
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAGTCSTELRLPKPSGWRLQPLRQSKAEAAEA RGELALNCTQEVTGKEKTSKGSSAFYN*

Gene Symbol:	HPS4
Accession:	XM_047441577
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAGTCSTELRLPKPSGWRLQPLRQSKAEAAEA RGELALNCTQEVTGKEKTSKGSSAFYN*

Gene Symbol:	HPS4
Accession:	NM_001349902
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAGTCSTELRLPKPSGWRLQPLRQSKAEAAEARGELALNCTQEVTGKEKT SKGSSAFYN*

Gene Symbol:	HPS4
Accession:	XM_011530486
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	229

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKSHGTWSDIKPPVSPWGLCFRRKVEDRVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVL LHRTAPQEQRLPTGEDAPQEHGKWMLWSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGL QDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSL GKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQ HGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQ GAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAA STSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPA ARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:	HPS4
Accession:	XM_047441573
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA TPQDRRFLQAVSLMHSEFAQLPALYEMTVSCTS*

Gene Symbol:	HPS4
Accession:	XM_047441563
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA TPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLK HGVNLL*

Gene Symbol:	HPS4
Accession:	XM_047441581
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAGTCSTELRLPKPSGWRLQPLRQSKAEAAEARGELALNCTQEVTGKEKT SKGSSAFYN*

Gene Symbol:	HPS4
Accession:	XM_047441566
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA TPQDRRFLQAVSLMHSEFAQLPALYEMTVRLPVTSCHIPLLSFTPSQSIQPPPVWRAD*

Gene Symbol:	HPS4
Accession:	NM_001410832
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVRLPVTSCHIPLLSFTPSQSIQPPPVWRAD*

Gene Symbol:	HPS4
Accession:	NM_001349904
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVSCTS*

Gene Symbol:	HPS4
Accession:	NM_001349900
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA TPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLK HGVNLL*

Gene Symbol:	HPS4
Accession:	XM_047441571
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA TPQDRRFLQAVSLMHSEFAQLPALYEMTVSCTS*

Gene Symbol:	HPS4
Accession:	XM_047441582
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAGTCSTELRLPKPSGWRLQPLRQSKAEAAEARGELALNCTQEVTGKEKT SKGSSAFYN*

Gene Symbol:	HPS4
Accession:	XM_047441565
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA TPQDRRFLQAVSLMHSEFAQLPALYEMTVRLPVTSCHIPLLSFTPSQSIQPPPVWRAD*

Gene Symbol:	HPS4
Accession:	XM_017029046
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSIQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF AQLPALYEMTVRLPVTSCHIPLLSFTPSQSIQPPPVWRAD*

Gene Symbol:	HPS4
Accession:	NR_146312
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	NR_146313
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	XR_007067989
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	NR_146314
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	XR_007067985
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	NR_073136
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	XR_001755364
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	XR_007067984
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	NR_073135
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	XR_001755361
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	XR_007067987
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	XR_007067988
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	NR_146315
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	NR_146311
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	XR_007067983
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	NR_146316
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	XR_007067986
Location:	EXON;NON-CODING

Gene Symbol:	HPS4
Accession:	XM_047441584
Location:	INTRON

Gene Symbol:	HPS4
Accession:	XM_011530495
Location:	INTRON

Gene Symbol:	HPS4
Accession:	XM_017029053
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000371030	CLINVAR
dbSNP (RS)	rs886057319	CLINVAR
MedGen	C3484357	CLINVAR
NCBI Gene	HPS4	CLINVAR
OMIM	606682	CLINVAR
	614073	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:11660847 - Homo sapiens

Imported Disease Annotations - ClinVar