RGD:8596419 Rat Genome Database

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Variant: RGD:8596419 -  Homo sapiens

RGD ID: 8596419
RS ID: rs28939089
ClinVar ID: CV19473
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSTPIP1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 77,324,645
GRCh38 15 77,032,304
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_172t1:c.748G>C
LRG_172:g.42181G>C
NG_007526.1:g.42181G>C
NC_000015.10:g.77032304G>C
More...
08/31/2023 intron variant|missense|missense variant pathogenic childhood <1 / 1 000 000 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
PAPA syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PSTPIP1
Accession:NM_003978
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER
ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM
QCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPK
TTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVE
RNGQRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:XM_006720737
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVR
AEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPV
PYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQ
EYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:XM_011522163
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKSKLSLYKKAMESK
KTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEF
DRLTILRNALWVHSNQLSMQCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGI
QPSCGMIKRFSGLLHGSPKTTSLAASAETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGD
ILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:XM_011522166
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKSKLSLYKKAMESK
KTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEF
DRLTILRNALWVHSNQLSMQCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPGEVRLADSAASSSGALPELLRS
GGHPADQQPWHTAVLRHDKEVLWTAARKSQDHFVGSFC*

Gene Symbol:PSTPIP1
Accession:XM_011522167
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKSKLSLYKKAMESK
KTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEF
DRLTILRNALWVHSNQLSMQCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPGSLDCCTEVPRPLRWQLLLRP*

Gene Symbol:PSTPIP1
Accession:XM_011522168
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKSKLSLYKKAMESK
KTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEF
DRLTILRNALWVHSNQLSMQCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGI
QPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLS
AGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:XM_011522165
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKS
KLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEH
RTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYD
REVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYD
YTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:NM_001321137
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 315
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNDRCPRPGSSSLARGCLLSVADGAGREGGPGPALPGLGRCCWRLALHQASLWQESELCRGRRLRMMPQLQFKDAFWCRD
FTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLA
LTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQN
KARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYQEVRLT
LEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLT
PTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEK
L*

Gene Symbol:PSTPIP1
Accession:NM_001321136
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGS
SHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQ
VEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELY
QEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAA
STETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVP
GSYLEKL*

Gene Symbol:PSTPIP1
Accession:NM_001321135
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER
ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM
QCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPGEVRLADSAASRFSGLLHGSPKTTSLAASAASTETLTPTPE
RNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER
ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM
QCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPK
TTSLAASAETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNG
QRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:XM_047433276
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKSKLSLYKKAMESK
KTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEF
DRLTILRNALWVHSNQLSMQCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPGEVRLADSAASSSGALPELLRS
GGHPADQQPWHTAVLRHDKEVLWTAARKSQDHFVGSFCCVHRDPDPHPRAE*

Gene Symbol:PSTPIP1
Accession:XM_047433277
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER
ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM
QCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPGEVRLADSAASSSGALPELLRSGGHPADQQPWHTAVLRHDK
EVLWTAARKSQDHFVGSFCCVHRDPDPHPRAE*

Gene Symbol:PSTPIP1
Accession:XM_047433280
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKSKLSLYKKAMESK
KTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEF
DRLTILRNALWVHSNQLSMQCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPGSLDCCTEVPRPLRWQLLLRPQ
RP*

Gene Symbol:PSTPIP1
Accession:XM_047433278
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKC
RDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILR
NALWVHSNQLSMQCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMI
KRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEV
ILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:NM_001411086
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER
ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM
QCVKDDELYQEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPK
TTSLAASAETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNG
QRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:XM_011522169
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_047433281
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:11971877   PMID:16527883   PMID:20506269   PMID:22161697   PMID:22513199   PMID:25845478   PMID:26025129   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004684 CLINVAR
dbSNP (RS) rs28939089 CLINVAR
MedGen C1858361 CLINVAR
NCBI Gene PSTPIP1 CLINVAR
OMIM 604416 CLINVAR
  606347 CLINVAR
OMIM Allele 606347.0001 CLINVAR