Variant position: 206 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 826 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 RIHIFAQQND----------QFQKVLSLCG HEDWIRGVEW--AAFGR------DLFLAS
Mouse RIHLYIQQDD----------QFQKALSLCG HEDWIRGVEW-
Rat RIHLFVQQDD----------WFQKMLSLCG HEDWIRGVEW-
Xenopus tropicalis RIHLYVLQNE----------QFEKTQVLHG HEDWIRGVEW-
Zebrafish RVHLYVQLSG----------QFQRVLTLTG HEDWVRGVEW-
Drosophila TVSLWSEQVETAGEGDSLGRQFQRKHKLTG HEDWVRGLDF-
Slime mold KIHIYIQNLDS----TTATLQFKKLMSLQG HQDWIRSLSFK
Baker's yeast NVFIASFILS-----DSGIEKCRVVAELEG HEDWVKSLAFR
Fission yeast KIMVYGS--------DSAISSFKLKAVLRG HLDWVRTLSFK
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
1 – 826 Elongator complex protein 2
205 – 246 WD 5
149 – 218 Missing. In isoform 7.
ELP2 is a novel gene implicated in neurodevelopmental disabilities.
Cohen J.S.; Srivastava S.; Farwell K.D.; Lu H.M.; Zeng W.; Lu H.; Chao E.C.; Fatemi A.;
Am. J. Med. Genet. A 167:1391-1395(2015)
Cited for: VARIANTS MRT58 ARG-206 AND TRP-462; INVOLVEMENT IN MRT58;
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.