Variant position: 120 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 334 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 DLLKANVKIFKSQGAALDKY AK-KSVKVIVVGNPANTNC-LTA
Mouse DLLKANVKIFKSQGTALEKY AK-KSVKVIVVGNPANTNC-L
Rat DLLKANVKIFKSQGAALEKY AK-KSVKVIVVGNPANTNC-L
Pig DLLKANVKIFKCQGAALDKY AK-KSVKVIVVGNPANTNC-L
Bovine DLLKANVKIFKCQGAALDKY AK-KSVKVIVVGNPANTNC-L
Cat DLLKANVKIFKCQGAALEKY AK-KSVKVIVVGNPANTNC-L
Chicken DLLKANVKIFKSQGAALDKY AK-KTVKVVVVGNPANTNC-L
Xenopus laevis DLLKANVKIFKSQGAALNKY SK-KSVKVIVVGNPANTNC-L
Xenopus tropicalis DLLKANVKIFKSQGAALNKY SK-KSVKVIVVGNPANTNC-L
Slime mold DLLKANAAIFKVQGKALAEH AN-KNVKVLVVGNPANTNA-L
Baker's yeast DLFNVNAGIISQLGDSIAEC CDLSKVFVLVISNPVNSLVPV
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.
MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.
Broeks M.H.; Shamseldin H.E.; Alhashem A.; Hashem M.; Abdulwahab F.; Alshedi T.; Alobaid I.; Zwartkruis F.; Westland D.; Fuchs S.; Verhoeven-Duif N.M.; Jans J.J.M.; Alkuraya F.S.;
Hum. Genet. 138:1247-1257(2019)
Cited for: INVOLVEMENT IN DEE88; VARIANT DEE88 VAL-120; FUNCTION; CHARACTERIZATIONC OF VARIANT DEE88 VAL-120;
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.