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UniProtKB/Swiss-Prot P00966: Variant p.Gly347Arg

Argininosuccinate synthase
Gene: ASS1
Variant information

Variant position:  347
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 Glycine (G) to Arginine (R) at position 347 (G347R, p.Gly347Arg).
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 glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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; severe clinical course.
Any additional useful information about the variant.



Sequence information

Variant position:  347
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:   HSPECEFVRHCIAKSQERVE  G KVQVSVLKGQVYILGRESPL
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                         HSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPL

Mouse                         HSPECEFVRHCIQKSQERVEGKVQVSVFKGQVYILGRESPL

Rat                           HSPECEFVRHCIDKSQERVEGKVQVSVFKGQVYILGRESPL

Bovine                        HSPECEFVRHCIAKSQERVEGKVQVSVFKGQVYILGRESPL

Chicken                       YSPECEFLKHCIARSQQAVAGTVHVSVFKGQVYVLGRESPH

Xenopus laevis                YSPECEFVRSCISKSQEMVEGKVLVSVLKGQVYVLGREAPH

Xenopus tropicalis            YSPECEFVRSCITKSQEMVEGKVLVSVLKGQVYVLGREAPH

Zebrafish                     FSPECEFVRECVERSQKHVEGRVQLSVYKGQVYILGRESPK

Drosophila                    FSPEAIYARKCIELAEQRVSGKVTVELAPGYCRAIARKAAK

Baker's yeast                 FTPECEYIRSMIQPSQNSVNGTVRVRLYKGNVIILGRSTKT

Fission yeast                 FSPCTRMLLAANNVSQEVVNGVVKLSVYKGNVTVLGRKSDT

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
Beta strand 347 – 354


Literature citations

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Engel K.; Hoehne W.; Haeberle J.;
Hum. Mutat. 30:300-307(2009)
Cited for: VARIANTS CTLN1 PRO-79; HIS-96; GLN-127; TRP-127; PRO-160; GLN-191; PRO-206; CYS-265; THR-277; ILE-284; SER-291; GLY-296; VAL-324; PHE-341; ARG-347 AND ASP-359;

Mutations in the human argininosuccinate synthetase (ASS1) gene, impact on patients, common changes, and structural considerations.
Diez-Fernandez C.; Ruefenacht V.; Haeberle J.;
Hum. Mutat. 38:471-484(2017)
Cited for: VARIANTS CTLN1 27-GLN--LYS-412 DEL; ILE-64; PRO-79; 97-CYS--LYS-412 DEL; CYS-100; HIS-100; ASP-111; CYS-117; 138-GLN--LYS-412 DEL; SER-157; PRO-160; 163-TYR--LYS-412 DEL; PRO-164; LYS-184; ASP-190; PRO-206; ARG-230; ILE-237; PRO-258; VAL-258; CYS-265; 275-GLY--LYS-412 DEL; THR-277; 279-ARG--LYS-412 DEL; ILE-284; PRO-290; SER-291; GLY-296; ASP-299; VAL-302; GLY-306; CYS-307; 311-GLN--LYS-412 DEL; MET-321; SER-324; VAL-324; HIS-335; PHE-341; 344-ARG--LYS-412 DEL; ARG-347; VAL-356; 357-GLN--LYS-412 DEL; ASP-359; 380-GLN--LYS-412 DEL AND PRO-389;

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.