Sequence information
Variant position: 115 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 349 The length of the canonical sequence.
Location on the sequence:
FGDLCTNRPVYAFDLLGFGR
S SRPRFDSDAEEVENQFVESI
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human FGDLCTNRPVYAFDLLGFGRS SRPRFDSDAEEVENQFVESI
Mouse FEDLSTDRPVYAFDLLGFGRS SRPRFDSDAEEVENQFVESI
Rat FEDLSTDRPVYAFDLLGFGRS SRPRFDSDAEEVENQFVESI
Pig FGDLCTNRPVYAFDLLGFGRS SRPRFDTDAEEVENQFVESI
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
2 – 349
1-acylglycerol-3-phosphate O-acyltransferase ABHD5
Domain
77 – 184
AB hydrolase-1
Modified residue
122 – 122
Phosphoserine
Literature citations
A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.
Ben Selma Z.; Yilmaz S.; Schischmanoff P.O.; Blom A.; Ozogul C.; Laroche L.; Caux F.;
J. Invest. Dermatol. 127:2273-2276(2007)
Cited for: VARIANT CDS GLY-115;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.