UniProtKB/Swiss-Prot Q9H300: Variant p.Val262Leu

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 262 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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 Valine (V) to Leucine (L) at position 262 (V262L, p.Val262Leu). 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.

• Variant rs3732581 [ dbSNP | Ensembl ]

Sequence information

Variant position: 262 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 379 The length of the canonical sequence.
Location on the sequence: QEQFMAVYLSAGVISNFVSY V GKVATGRYGPSLGASGAIMT 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	53 – 379	Presenilin-associated rhomboid-like protein, mitochondrial
Transmembrane	245 – 262	Helical
Active site	277 – 277	Nucleophile
Mutagenesis	277 – 277	S -> A. Loss of cleavage of CLPB, DIABLO, STARD7 and TTC19.
Mutagenesis	277 – 277	S -> G. Loss of PGAM5 cleavage.

Literature citations

PAMP and PARL, two novel putative metalloproteases interacting with the COOH-terminus of presenilin-1 and -2.
Pellegrini L.; Passer B.J.; Canelles M.; Lefterov I.; Ganjei J.K.; Fowlkes B.J.; Koonin E.V.; D'Adamio L.;
J. Alzheimers Dis. 3:181-190(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT LEU-262; INTERACTION WITH PSEN1 AND PSEN2; Functional prediction of the coding sequences of 121 new genes deduced by analysis of cDNA clones from human fetal liver.
Zhang C.; Yu Y.; Zhang S.; Wei H.; Zhou G.; Ouyang S.; Luo L.; Bi J.; Liu M.; He F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 192-379 (ISOFORM 1); VARIANT LEU-262;