Variant position: 336 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 445 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 YKTNHLRVHNRKELIKILSE RFEEELTSKWLYLFEGSGVPY
Mouse YRTNHLRVQNRKELVKILSA RFAEEVTAKWLCLFEGSGIPY
Rat YRTNHLRVQNRKELVKILSA RFAEEVTAKWLCLFEGSGIPY
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
39 – 445 Succinate--hydroxymethylglutarate CoA-transferase
C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA.
Marlaire S.; Van Schaftingen E.; Veiga-da-Cunha M.;
J. Inherit. Metab. Dis. 37:13-19(2014)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT GA3 TRP-336;
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in C7orf10.
Sherman E.A.; Strauss K.A.; Tortorelli S.; Bennett M.J.; Knerr I.; Morton D.H.; Puffenberger E.G.;
Am. J. Hum. Genet. 83:604-609(2008)
Cited for: VARIANT GA3 TRP-336;
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