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UniProtKB/Swiss-Prot Q13075: Variant p.Val535Met

Baculoviral IAP repeat-containing protein 1
Gene: NAIP
Variant information

Variant position:  535
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Valine (V) to Methionine (M) at position 535 (V535M, p.Val535Met).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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

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



Sequence information

Variant position:  535
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1403
The length of the canonical sequence.

Location on the sequence:   LASIICDQLLEKEGSVTEMC  V RNIIQQLKNQVLFLLDDYKE
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 – 1403 Baculoviral IAP repeat-containing protein 1
Domain 464 – 758 NACHT


Literature citations

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy.
Roy N.; Mahadevan M.S.; McLean M.; Shutler G.; Yaraghi Z.; Farahini R.; Baird S.; Besner-Johnston A.; Lefebvre C.; Kang X.; Salih M.; Aubry H.; Tamai K.; Guan X.; Ioannou P.; Crawford T.O.; de Jong P.J.; Surh L.; Ikeda J.; Korneluk R.G.; Mackenzie A.;
Cell 80:167-178(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT MET-535; POSSIBLE ROLE IN THE PROTECTION FROM SPINAL MUSCULAR ATROPHY;

Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.
Chen Q.; Baird S.D.; Mahadevan M.; Besner-Johnston A.; Farahani R.; Xuan J.-Y.; Kang X.; Lefebvre C.; Ikeda J.-E.; Korneluk R.G.; MacKenzie A.E.;
Genomics 48:121-127(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; SEQUENCE REVISION; VARIANT MET-535;

The DNA sequence and comparative analysis of human chromosome 5.
Schmutz J.; Martin J.; Terry A.; Couronne O.; Grimwood J.; Lowry S.; Gordon L.A.; Scott D.; Xie G.; Huang W.; Hellsten U.; Tran-Gyamfi M.; She X.; Prabhakar S.; Aerts A.; Altherr M.; Bajorek E.; Black S.; Branscomb E.; Caoile C.; Challacombe J.F.; Chan Y.M.; Denys M.; Detter J.C.; Escobar J.; Flowers D.; Fotopulos D.; Glavina T.; Gomez M.; Gonzales E.; Goodstein D.; Grigoriev I.; Groza M.; Hammon N.; Hawkins T.; Haydu L.; Israni S.; Jett J.; Kadner K.; Kimball H.; Kobayashi A.; Lopez F.; Lou Y.; Martinez D.; Medina C.; Morgan J.; Nandkeshwar R.; Noonan J.P.; Pitluck S.; Pollard M.; Predki P.; Priest J.; Ramirez L.; Retterer J.; Rodriguez A.; Rogers S.; Salamov A.; Salazar A.; Thayer N.; Tice H.; Tsai M.; Ustaszewska A.; Vo N.; Wheeler J.; Wu K.; Yang J.; Dickson M.; Cheng J.-F.; Eichler E.E.; Olsen A.; Pennacchio L.A.; Rokhsar D.S.; Richardson P.; Lucas S.M.; Myers R.M.; Rubin E.M.;
Nature 431:268-274(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT MET-535;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT MET-535;

Functional human NAIP promoter transcription regulatory elements for the NAIP and PsiNAIP genes.
Xu M.; Okada T.; Sakai H.; Miyamoto N.; Yanagisawa Y.; MacKenzie A.E.; Hadano S.; Ikeda J.-E.;
Biochim. Biophys. Acta 1574:35-50(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1160 (ISOFORM 2); VARIANT MET-535;

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.