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UniProtKB/Swiss-Prot P30566: Variant p.Asp430Asn

Adenylosuccinate lyase
Gene: ADSL
Variant information

Variant position:  430
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 Aspartate (D) to Asparagine (N) at position 430 (D430N, p.Asp430Asn).
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 acidic (D) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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 ADSLD; mild.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  430
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  484
The length of the canonical sequence.

Location on the sequence:   AASVVKQEGGDNDLIERIQV  D AYFSPIHSQLDHLLDPSSFT
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                         AASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLD-PSSFT

Mouse                         AAAVVKQEGGDNDLIERIRADAYFSPIHSQLEHLLD-PSSF

Bovine                        AAAVVKQEGGDNDLIERIQADAYFSPIHSQLDHLLD-PSSF

Chicken                       AAAVVKQEGGDNDFIARVRADPYFSPIHEHLDSLLD-PSSF

Caenorhabditis elegans        AKQLQATQKVD---IRQTMADPFFDSVRDRVVGLVNNPINF

Slime mold                    SGSKKITESDIQTFIDSLSIP---DDIKSELK-LIT-PFNY

Baker's yeast                 AAAVVKEEGGENDLIERVKRDEFFKPIWEELDSLLE-PSTF

Fission yeast                 AGRVVKEEGGDNDLIERIKNTPYFAPIYDELDSLLD-ASTF

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 2 – 484 Adenylosuccinate lyase
Cross 415 – 415 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
Alternative sequence 398 – 456 Missing. In isoform 2.


Literature citations

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
Kmoch S.; Hartmannova H.; Stiburkova B.; Krijt J.; Zikanova M.; Sebesta I.;
Hum. Mol. Genet. 9:1501-1513(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); FUNCTION; VARIANTS ADSLD VAL-3; HIS-114; GLN-190; CYS-194; ASN-268; HIS-426 AND ASN-430;

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.