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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00966: Variant p.Val306Gly

Argininosuccinate synthase
Gene: ASS1
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Variant information Variant position: help 306 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Valine (V) to Glycine (G) at position 306 (V306G, p.Val306Gly). 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: help Change from medium size and hydrophobic (V) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In CTLN1. Any additional useful information about the variant.


Sequence information Variant position: help 306 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 412 The length of the canonical sequence.
Location on the sequence: help AGTILYHAHLDIEAFTMDRE V RKIKQGLGLKFAELVYTGFW 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         AGTILYHAHLDIEAFTMDREVRKIKQGL-GLKFAELVYTGFW

Mouse                         AGTILYHAHLDIEAFTMDREVRKIKQGL-GLKFAELVYTGF

Rat                           AGTILYHAHLDIEAFTMDREVRKIKQGL-GLKFAELVYTGF

Bovine                        AGTILYHAHLDIEAFTMDREVRKIKQGL-GLKFAELVYTGF

Chicken                       AGTILYHAHLDIEAFTMDREVRKIKQGL-SLKFSELVYNGF

Xenopus laevis                AGTILYQAHLDIEAFTMDREMRKIKQQL-SQRFAEQIYNGF

Xenopus tropicalis            AGTILYQAHLDVEAFTMDREVRKIKQHL-SQRFAEQIYNGF

Zebrafish                     GGTVLLQAHLDIETFTMDREVRKIKQSL-GIKFSELIYNGF

Drosophila                    GGTILFAAHQDLEVFALDREVLRTKQVL-RDRMADYVYNGF

Baker's yeast                 PLTVLRKAHVDLEGLTLDKEVRQLRDSFVTPNYSRLIYNGS

Fission yeast                 GLTILRTAHMDLEGLTMEREVRALRDQFVTFNLAKILYNGQ
Sequence annotation in neighborhood: help 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 304 – 323



Literature citations
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.