RGD:11623593 Rat Genome Database

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Variant: RGD:11623593 -  Homo sapiens

RGD ID: 11623593
RS ID: rs145344175
ClinVar ID: CV333110
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSTPIP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 77,329,410
GRCh38 15 77,037,069
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_172:g.46946G>A
NG_007526.1:g.46946G>A
NC_000015.10:g.77037069G>A
NC_000015.9:g.77329410G>A
More... 		01/03/2018 missense variant benign|likely benign|conflicting interpretations of pathogenicity childhood <1 / 1 000 000 Familial recurrent arthritis; none provided; Pyogenic arthritis, pyoderma gangrenosum and acne; Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSTPIP1
Accession:NM_001321135
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER
ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM
QCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPGEVRLADSAASRFSGLLHGSPKTTSLAASAASTETLTPTPE
RNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSTGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:NM_001411086
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER
ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM
QCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPK
TTSLAASAETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSTGDILEVILEGEDGWWTVERNG
QRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:XM_011522168
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 401
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKSKLSLYKKAMESK
KTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEF
DRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGI
QPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLS
TGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:NM_001321137
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 447
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNDRCPRPGSSSLARGCLLSVADGAGREGGPGPALPGLGRCCWRLALHQASLWQESELCRGRRLRMMPQLQFKDAFWCRD
FTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLA
LTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQN
KARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLT
LEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLT
PTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSTGDILEVILEGEDGWWTVERNGQRGFVPGSYLEK
L*

Gene Symbol:PSTPIP1
Accession:XM_011522163
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 398
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKSKLSLYKKAMESK
KTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEF
DRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGI
QPSCGMIKRFSGLLHGSPKTTSLAASAETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSTGD
ILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:XM_011522165
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 333
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKGMAVPRQSDCMEVKSPSWEYEAVMDRVQKS
KLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEH
RTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYD
REVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYD
YTAQNPDELDLSTGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER
ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM
QCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPK
TTSLAASAETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSTGDILEVILEGEDGWWTVERNG
QRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:NM_003978
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 382
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSL
KQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER
ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM
QCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPK
TTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSTGDILEVILEGEDGWWTVE
RNGQRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:XM_006720737
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVR
AEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPV
PYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQ
EYRALYDYTAQNPDELDLSTGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL*

Gene Symbol:PSTPIP1
Accession:NM_001321136
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 373
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGS
SHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQ
VEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELY
EEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAA
STETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSTGDILEVILEGEDGWWTVERNGQRGFVP
GSYLEKL*

Gene Symbol:PSTPIP1
Accession:XM_047433278
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKC
RDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILR
NALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPGIQPSCGMI
KRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSTGDILEV
ILEGEDGWWTVERNGQRGFVPGSYLEKL*

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

Gene Symbol:PSTPIP1
Accession:XM_047433277
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_011522169
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_011522166
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_047433280
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_047433276
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_047433281
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_011522167
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000375012 CLINVAR
  RCV001718658 CLINVAR
  RCV002263006 CLINVAR
dbSNP (RS) rs145344175 CLINVAR
MedGen C1858361 CLINVAR
  C3661900 CLINVAR
  C3890737 CLINVAR
NCBI Gene PSTPIP1 CLINVAR
OMIM 604416 CLINVAR
  606347 CLINVAR