RGD:13518142 Rat Genome Database

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Variant: RGD:13518142 -  Homo sapiens

RGD ID: 13518142
RS ID: rs1434169374
ClinVar ID: CV487321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GUSB  LOC127409357  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 65,439,336
GRCh38 7 65,974,349
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000172.2:p.Trp446Ter
NC_000007.14:g.65974349C>T
NG_016197.1:g.12966G>A
NC_000007.13:g.65439336C>T
More... 		07/23/2019 non-coding transcript variant|nonsense pathogenic Arylsulfatase B deficiency; Beta-glucuronidase deficiency; Maroteaux Lamy syndrome; MPS 6; MPS 7; MPS VI; MPS VII; Mucopolysaccharidosis type VI; Mucopolysaccharidosis type VII; N-acetylgalactosamine-4-sulfatase deficiency; Sly syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GUSB
Accession:XM_047420290
Location:3UTRS;EXON

Gene Symbol:GUSB
Accession:XM_047420287
Location:3UTRS;EXON

Gene Symbol:GUSB
Accession:NM_001293105
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPGPAHKSGAEDWQCPFLCHRGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAY
LYSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGAN
AFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVM*SVANEPASHLESA
GYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQS
EYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAA
FLLRERYWKIANETRYPHSVAKSQCLENSLFT*

Gene Symbol:GUSB
Accession:XM_047420289
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPGPAHKSGAEDWQCPFLCHRGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAY
LYSLEIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVM
EEVVRRDKNHPAVVM*SVANEPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHD
YGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFA
DFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT*

Gene Symbol:GUSB
Accession:NM_001293104
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 256
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSWYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQDSGLVNYQISVKGSNLFKLEVRLLDAENKVV
ANGTGTQGQLKVPGVSLWWPYLMHERPAYLYSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNK
HEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVM
EEVVRRDKNHPAVVM*SVANEPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHD
YGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFA
DFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT*

Gene Symbol:GUSB
Accession:XM_017012091
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPGPAHKSGAEDWQCPFLCHRGIPRVTLSRTHILTFSTTLDCSGLYFCTRHPPPTSMTSPSPPAWSKTVVRASGLVNYQ
ISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYLYSLEIRGKGFDWPLLVKDFNLLRWLGA
NAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVM*SVANEPASHLES
AGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQ
SEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSA
AFLLRERYWKIANETRYPHSVAKSQCLENSLFT*

Gene Symbol:GUSB
Accession:NM_000181
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 446
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVP
SSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVG
PLPSRLRITIAINNTLTPTTLPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQD
SGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYLYSLEVQLTAQTSLGPVSDFY
TLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYG
IVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVM*SVANEPASHLESAGYYLKMVIAHTKSLDPSRPVT
FVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEE
YQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVA
KSQCLENSLFT*

Gene Symbol:GUSB
Accession:XM_047420288
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSWYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQDSGLVNYQISVKGSNLFKLEVRLLDAENKVV
ANGTGTQGQLKVPGVSLWWPYLMHERPAYLYSLEIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGI
VVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVM*SVANEPASHLESAGYYLKMVIAHTKSLDPSRPVTF
VSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEY
QKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAK
SQCLENSLFT*

Gene Symbol:GUSB
Accession:XM_005250297
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVP
SSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVG
PLPSRLRITIAINNTLTPTTLPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQD
SGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYLYSLEIRGKGFDWPLLVKDFN
LLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVM*SVANE
PASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKK
YQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTR
QRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT*

Gene Symbol:GUSB
Accession:NM_001284290
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 300
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVP
SSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVQ
LTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHY
PYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVM*SVANEPASHLESAGYYLKMV
IAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETI
AGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERY
WKIANETRYPHSVAKSQCLENSLFT*

Gene Symbol:GUSB
Accession:XM_047420286
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 279
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPGPAHKSGAEDWQCPFLCHRGIPRVTLSRTHILTFSTTLDCSGLYFCTRHPPPTSMTSPSPPAWSKTVVRASGLVNYQ
ISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYLYSLEVQLTAQTSLGPVSDFYTLPVGIR
TVAVTKSQFLINGKPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDEC
PGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVM*SVANEPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNY
AADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLE
QYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLEN
SLFT*

Gene Symbol:GUSB
Accession:NR_120531
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9490302   PMID:9921904   PMID:19224584   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000590006 CLINVAR
  RCV001206155 CLINVAR
dbSNP (RS) rs1434169374 CLINVAR
MedGen C0026709 CLINVAR
  C0085132 CLINVAR
NCBI Gene GUSB CLINVAR
OMIM 253200 CLINVAR
  253220 CLINVAR
  611499 CLINVAR