Variant position: 93 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 311 The length of the canonical sequence.
Location on the sequence:
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 QTVRSHGVLGLYRGLSSLLY GSIPKAAVRFGMFEFLSNHMR
Mouse QTVRSHGVLGLYRGLSSLLY GSIPKAAVRFGMFEFLSNHMR
Rat QTVRSHGVLGLYRGLSSLLY GSIPKAAVRFGMFEFLSNHMR
Bovine QTVRSHGLLGLYRGLSSLLY GSIPKAAVRFGTFEFLSNHMR
Caenorhabditis elegans QTVNGHGFFGLYRGLSVLLY GSIPKSSFRFGTFEYLKSQAA
Baker's yeast KTAKTQGIGSIYVGCPAFII GNTAKAGIRFLGFDTIKDMLR
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
14 – 311 Tricarboxylate transport protein, mitochondrial
86 – 105 Helical; Name=2
23 – 111 Solcar 1
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
Pop A.; Williams M.; Struys E.A.; Monne M.; Jansen E.E.W.; De Grassi A.; Kanhai W.A.; Scarcia P.; Ojeda M.R.F.; Porcelli V.; van Dooren S.J.M.; Lennertz P.; Nota B.; Abdenur J.E.; Coman D.; Das A.M.; El-Gharbawy A.; Nuoffer J.M.; Polic B.; Santer R.; Weinhold N.; Zuccarelli B.; Palmieri F.; Palmieri L.; Salomons G.S.;
J. Inherit. Metab. Dis. 41:169-180(2018)
Cited for: FUNCTION; VARIANTS D2L2AD THR-28; ASN-40; LYS-47; ASP-93; TRP-193 AND ARG-262; CHARACTERIZATION OF VARIANTS D2L2AD THR-28; ASN-40; LYS-47; ASP-93; TRP-193; 256-TYR--ASP-311 DEL AND ARG-262;
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.