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UniProtKB/Swiss-Prot Q6IA69: Variant p.Cys49Arg

Glutamine-dependent NAD(+) synthetase
Gene: NADSYN1
Variant information

Variant position:  49
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 49 (C49R, p.Cys49Arg).
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 VCRL3; loss of protein expression.
Any additional useful information about the variant.



Sequence information

Variant position:  49
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  706
The length of the canonical sequence.

Location on the sequence:   SIEIAKNRGARYRLGPELEI  C GYGCWDHYYESDTLLHSFQV
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.

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 – 706 Glutamine-dependent NAD(+) synthetase
Domain 5 – 275 CN hydrolase
Active site 45 – 45 Proton acceptor; for glutaminase activity
Alternative sequence 7 – 266 Missing. In isoform 2.
Turn 45 – 49


Literature citations

Bi-allelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of congenital NAD deficiency disorders.
Szot J.O.; Campagnolo C.; Cao Y.; Iyer K.R.; Cuny H.; Drysdale T.; Flores-Daboub J.A.; Bi W.; Westerfield L.; Liu P.; Leung T.N.; Choy K.W.; Chapman G.; Xiao R.; Siu V.M.; Dunwoodie S.L.;
Am. J. Hum. Genet. 106:129-136(2020)
Cited for: INVOLVEMENT IN VCRL3; VARIANTS VCRL3 ARG-49; LEU-132; 245-CYS--ASP-706 DEL; THR-573 AND 613-TYR--ASP-706 DEL; CHARACTERIZATION OF VARIANTS VCRL3 ARG-49; LEU-132 AND THR-573; FUNCTION; CATALYTIC ACTIVITY;

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.