Sequence information
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:
DLLKANVKIFKSQGAALDKY
A KKSVKVIVVGNPANTNCLTA
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 DLLKANVKIFKSQGAALDKYA K-KSVKVIVVGNPANTNC-LTA
Mouse DLLKANVKIFKSQGTALEKYA K-KSVKVIVVGNPANTNC-L
Rat DLLKANVKIFKSQGAALEKYA K-KSVKVIVVGNPANTNC-L
Pig DLLKANVKIFKCQGAALDKYA K-KSVKVIVVGNPANTNC-L
Bovine DLLKANVKIFKCQGAALDKYA K-KSVKVIVVGNPANTNC-L
Cat DLLKANVKIFKCQGAALEKYA K-KSVKVIVVGNPANTNC-L
Chicken DLLKANVKIFKSQGAALDKYA K-KTVKVVVVGNPANTNC-L
Xenopus laevis DLLKANVKIFKSQGAALNKYS K-KSVKVIVVGNPANTNC-L
Xenopus tropicalis DLLKANVKIFKSQGAALNKYS K-KSVKVIVVGNPANTNC-L
Slime mold DLLKANAAIFKVQGKALAEHA N-KNVKVLVVGNPANTNA-L
Baker's yeast DLFNVNAGIISQLGDSIAECC DLSKVFVLVISNPVNSLVPV
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.
Literature citations
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;
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.