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UniProtKB/Swiss-Prot P00966: Variant p.Cys337Arg

Argininosuccinate synthase
Gene: ASS1
Variant information

Variant position:  337
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Cysteine (C) to Arginine (R) at position 337 (C337R, p.Cys337Arg).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (C) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CTLN1.
Any additional useful information about the variant.



Sequence information

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:   FAELVYTGFWHSPECEFVRH  C IAKSQERVEGKVQVSVLKGQ
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                         FAELVYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQ

Mouse                         FAELVYTGFWHSPECEFVRHCIQKSQERVEGKVQVSVFKGQ

Rat                           FAELVYTGFWHSPECEFVRHCIDKSQERVEGKVQVSVFKGQ

Bovine                        FAELVYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVFKGQ

Chicken                       FSELVYNGFWYSPECEFLKHCIARSQQAVAGTVHVSVFKGQ

Xenopus laevis                FAEQIYNGFWYSPECEFVRSCISKSQEMVEGKVLVSVLKGQ

Xenopus tropicalis            FAEQIYNGFWYSPECEFVRSCITKSQEMVEGKVLVSVLKGQ

Zebrafish                     FSELIYNGFWFSPECEFVRECVERSQKHVEGRVQLSVYKGQ

Drosophila                    MADYVYNGFWFSPEAIYARKCIELAEQRVSGKVTVELAPGY

Baker's yeast                 YSRLIYNGSYFTPECEYIRSMIQPSQNSVNGTVRVRLYKGN

Fission yeast                 LAKILYNGQFFSPCTRMLLAANNVSQEVVNGVVKLSVYKGN

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.

TypePositionsDescription
Chain 1 – 412 Argininosuccinate synthase
Helix 329 – 341


Literature citations

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;

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.