Variant position: 337 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 412 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 FAELVYTGFWHSPECEFVRH CIAKSQERVEGKVQVSVLKGQ
Mouse FAELVYTGFWHSPECEFVRH CIQKSQERVEGKVQVSVFKGQ
Rat FAELVYTGFWHSPECEFVRH CIDKSQERVEGKVQVSVFKGQ
Bovine FAELVYTGFWHSPECEFVRH CIAKSQERVEGKVQVSVFKGQ
Chicken FSELVYNGFWYSPECEFLKH CIARSQQAVAGTVHVSVFKGQ
Xenopus laevis FAEQIYNGFWYSPECEFVRS CISKSQEMVEGKVLVSVLKGQ
Xenopus tropicalis FAEQIYNGFWYSPECEFVRS CITKSQEMVEGKVLVSVLKGQ
Zebrafish FSELIYNGFWFSPECEFVRE CVERSQKHVEGRVQLSVYKGQ
Drosophila MADYVYNGFWFSPEAIYARK CIELAEQRVSGKVTVELAPGY
Baker's yeast YSRLIYNGSYFTPECEYIRS MIQPSQNSVNGTVRVRLYKGN
Fission yeast LAKILYNGQFFSPCTRMLLA ANNVSQEVVNGVVKLSVYKGN
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 – 412 Argininosuccinate synthase
329 – 341
Prenatal diagnosis of citrullinemia type 1: a Chinese family with a novel mutation of the ASS1 gene.
Wu T.F.; Liu Y.P.; Li X.Y.; Wang Q.; Song J.Q.; Yang Y.L.;
Brain Dev. 36:264-267(2014)
Cited for: VARIANTS CTLN1 LYS-283 AND ARG-337;
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.