Variant position: 261 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 457 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 EALHGPPKKILVEGANAALL DIDFGTYPFVTSSNCTVGGVC
Mouse EALHGPPKKVLVEGANAALL DIDFGTYPFVTSSNCTVGGVC
Pig EALHGPPKKILVEGANAALL DIGFGTCPFVTSSNCTVGGVC
Bovine EALHGPPKKILVEGANAALL DIDFGTYPFVTSSNCTVGGVC
Xenopus tropicalis EALHGSPKKILVEGANAALL DIDFGTYPFVTSSNCTVGGVC
Zebrafish DAIHGPQKKILVEGANAALL DIDFGTYPFVTSSNCTVGGVC
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 – 457 Adenylosuccinate synthetase isozyme 1
256 – 256 IMP
271 – 271 IMP
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
Park H.J.; Hong Y.B.; Choi Y.C.; Lee J.; Kim E.J.; Lee J.S.; Mo W.M.; Ki S.M.; Kim H.I.; Kim H.J.; Hyun Y.S.; Hong H.D.; Nam K.; Jung S.C.; Kim S.B.; Kim S.H.; Kim D.H.; Oh K.W.; Kim S.H.; Yoo J.H.; Lee J.E.; Chung K.W.; Choi B.O.;
Ann. Neurol. 79:231-243(2016)
Cited for: FUNCTION; CATALYTIC ACTIVITY; PATHWAY; INVOLVEMENT IN MPD5; VARIANT MPD5 ASN-261; CHARACTERIZATION OF VARIANT MPD5 ASN-261;
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.