RGD:13820049 Rat Genome Database

Variant: RGD:13820049 - Homo sapiens

RGD ID:

13820049

RS ID:

rs370404621

ClinVar ID:

CV573543

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PSTPIP1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	15	77,328,184
GRCh38	15	77,035,843

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_172:g.45720G>A NG_007526.1:g.45720G>A NC_000015.10:g.77035843G>A NC_000015.9:g.77328184G>A More...	02/28/2018	missense variant	uncertain significance	Familial recurrent arthritis; Pyogenic arthritis, pyoderma gangrenosum and acne; Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne

Disease Annotations Click to see Annotation Detail View

Chediak-Higashi syndrome (IAGP)

PAPA syndrome (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PSTPIP1
Accession:	XM_047433281
Location:	3UTRS;EXON

Gene Symbol:	PSTPIP1
Accession:	XM_047433276
Location:	3UTRS;EXON

Gene Symbol:	PSTPIP1
Accession:	XM_011522167
Location:	3UTRS;EXON

Gene Symbol:	PSTPIP1
Accession:	XM_011522169
Location:	3UTRS;EXON

Gene Symbol:	PSTPIP1
Accession:	XM_011522166
Location:	3UTRS;EXON

Gene Symbol:	PSTPIP1
Accession:	XM_047433280
Location:	3UTRS;EXON

Gene Symbol:	PSTPIP1
Accession:	XM_047433277
Location:	3UTRS;EXON

Gene Symbol:	PSTPIP1
Accession:	XM_011522163
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	359

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKSKLSLYKKAMESK KTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEF DRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGI QPSCGMIKRFSGLLHGSPKTTSLAASAETLTPTPERNESVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGD ILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:	PSTPIP1
Accession:	XM_011522165
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	294

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPSSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKS KLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEH RTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYD REVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNESVYTAIAVQEIQGNPASPAQEYRALYD YTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:	PSTPIP1
Accession:	NM_001321137
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	408

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNDRCPRPGSSSLARGCLLSVADGAGREGGPGPALPGLGRCCWRLALHQASLWQESELCRGRRLRMMPQLQFKDAFWCRD FTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLA LTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQN KARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLT LEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLT PTPERNESVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEK L*

Gene Symbol:	PSTPIP1
Accession:	XM_047433278
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPSSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKC RDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILR NALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMI KRFSGLLHGSPKTTSLAASAASTETLTPTPERNESVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEV ILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:	PSTPIP1
Accession:	XM_011522168
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	362

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKSKLSLYKKAMESK KTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEF DRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGI QPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNESVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLS AGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:	PSTPIP1
Accession:	NM_001411086
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	340

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM QCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPK TTSLAASAETLTPTPERNESVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNG QRGFVPGSYLEKL*

Gene Symbol:	PSTPIP1
Accession:	NM_001321135
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	324

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM QCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPGEVRLADSAASRFSGLLHGSPKTTSLAASAASTETLTPTPE RNESVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:	PSTPIP1
Accession:	NM_003978
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	343

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM QCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPK TTSLAASAASTETLTPTPERNESVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVE RNGQRGFVPGSYLEKL*

Gene Symbol:	PSTPIP1
Accession:	NM_001321136
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	334

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGS SHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQ VEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELY EEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAA STETLTPTPERNESVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVP GSYLEKL*

Gene Symbol:	PSTPIP1
Accession:	XM_006720737
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	221

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVR AEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPV PYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNESVYTAIAVQEIQGNPASPAQ EYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	340

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM QCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPK TTSLAASAETLTPTPERNESVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNG QRGFVPGSYLEKL*

Gene Symbol:	PSTPIP1
Accession:	NR_135552
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000694720	CLINVAR
	RCV002263937	CLINVAR
dbSNP (RS)	rs370404621	CLINVAR
MedGen	C1858361	CLINVAR
	C3890737	CLINVAR
NCBI Gene	PSTPIP1	CLINVAR
OMIM	604416	CLINVAR
	606347	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:13820049 - Homo sapiens

Imported Disease Annotations - ClinVar