UniProtKB/SwissProt variant VAR_081661

Sequence information
Variant position:  28
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:  

RALAAAAPASGKAKLTHPGK

 A ILAGGLAGGIEICITFPTEY

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                         RALAAAAPAS-----GKAKLTHPGKAILAGGLAGGIEICITFPTEY

Mouse                         RALSAAAPGS-----GKPKLTHPGKAILAGGLAGGIEICIT

Rat                           RALTAAAPGS-----GKAKLTHPGKAILAGGLAGGIEICIT

Bovine                        RALTSASPGS-----GKAKLTHPGKAILAGGLAGGIEICIT

Caenorhabditis elegans        QPVPGAKPLSMWQQYGPSEKTVRG--IVIGGITGGIEICIT

Baker's yeast                 ATKSDVDPLH---------------SFLAGSLAGAAEACIT

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 14 – 311 Tricarboxylate transport protein, mitochondrial
Repeat 23 – 111 Solcar 1
Literature citations

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;

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.

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