Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49810: Variant p.Ser130Leu

Presenilin-2
Gene: PSEN2
Feedback?
Variant information Variant position: help 130 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Serine (S) to Leucine (L) at position 130 (S130L, p.Ser130Leu). 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 small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In CMD1V and AD4; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 130 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 448 The length of the canonical sequence.
Location on the sequence: help RFYTEKNGQLIYTPFTEDTP S VGQRLLNSVLNTLIMISVIV 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: 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 – 297 Presenilin-2 NTF subunit
Topological domain 109 – 138 Lumenal



Literature citations
Mutations of presenilin genes in dilated cardiomyopathy and heart failure.
Li D.; Parks S.B.; Kushner J.D.; Nauman D.; Burgess D.; Ludwigsen S.; Partain J.; Nixon R.R.; Allen C.N.; Irwin R.P.; Jakobs P.M.; Litt M.; Hershberger R.E.;
Am. J. Hum. Genet. 79:1030-1039(2006)
Cited for: VARIANT CMD1V LEU-130; Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
Lohmann E.; Guerreiro R.J.; Erginel-Unaltuna N.; Gurunlian N.; Bilgic B.; Gurvit H.; Hanagasi H.A.; Luu N.; Emre M.; Singleton A.;
Neurobiol. Aging 33:1850.E17-1850.E27(2012)
Cited for: VARIANTS AD4 HIS-62; TRP-71 AND LEU-130;
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.