UniProtKB/Swiss-Prot P49810: Variant p.Ser130Leu

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 130 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: 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: 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: 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: -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: In CMD1V and AD4; uncertain significance. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs63750197 [ dbSNP | Ensembl ]

Sequence information

Variant position: 130 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 448 The length of the canonical sequence.
Location on the sequence: 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: 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.

Type	Positions	Description
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;