Variant position: 646 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 866 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 ELGVLGVAGPQARKVLQKLT SEDLSDDVFKFLQTKSLKVSN
Mouse EFGVLGVAGPYARRVLQKLT SEDLSDDAFKFLQTKSFNISD
Rat ELGVLGVAGPYARRVLQKLT SEDLSDDVFKFLQTKSLKISD
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
51 – 866 Dimethylglycine dehydrogenase, mitochondrial
655 – 655 N6-acetyllysine; alternate
655 – 655 N6-succinyllysine; alternate
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.
Binzak B.A.; Wevers R.A.; Moolenaar S.H.; Lee Y.-M.; Hwu W.-L.; Poggi-Bach J.; Engelke U.F.H.; Hoard H.M.; Vockley J.G.; Vockley J.;
Am. J. Hum. Genet. 68:839-847(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLY-530 AND PRO-646; VARIANT DMGDHD ARG-109;
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
Bian Y.; Song C.; Cheng K.; Dong M.; Wang F.; Huang J.; Sun D.; Wang L.; Ye M.; Zou H.;
J. Proteomics 96:253-262(2014)
Cited for: VARIANT [LARGE SCALE ANALYSIS] PRO-646; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];
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.