UniProtKB/Swiss-Prot Q96E52: Variant p.Asp365Tyr

Metalloendopeptidase OMA1, mitochondrial
Gene: OMA1
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Variant information Variant position:

365 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 Aspartate (D) to Tyrosine (Y) at position 365 (D365Y, p.Asp365Tyr). 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 acidic (D) to large size and aromatic (Y) 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
Other resources:

Links to websites of interest for the variant.

Variant rs77980955 [ dbSNP | Ensembl ]

Sequence information Variant position:

365 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

524 The length of the canonical sequence.
Location on the sequence:

HLLDFLGMIFLTMIWAICPR D SLALLCQWIQSKLQEYMFNR 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.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         HLLDFLGMIFLTMIWAICPRDSLALLCQWIQSKLQEYMFNR

Mouse                         HLLDFLGMIFLTMIWAICPRDSLAVLGQWIQSKLQEYMFDR

Rat                           HLLDFLGMIFLTMIWAICPRDSLAVLGQWIQSKLQEYMFDR

Bovine                        HLLDFLGLIFLTTIWAICPRDSLALLGQWIQSKLQEFLFDR

Zebrafish                     HVVELLSLVLLTAIWAVCPRDSLAALGHWIQGKLVQFLFDR

Baker's yeast                 PIYSLLGLVLYTV-----------TGAHAINNILLDGFLRM

Fission yeast                 RAVS--CIVFLAA-------ASLDLSGQ-LSHFLLNFGLLL

Literature citations
Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.
Daoud H.; Valdmanis P.N.; Gros-Louis F.; Belzil V.; Spiegelman D.; Henrion E.; Diallo O.; Desjarlais A.; Gauthier J.; Camu W.; Dion P.A.; Rouleau G.A.;
Arch. Neurol. 68:587-593(2011)
Cited for: VARIANTS TYR-69; LEU-117; GLY-272; LEU-329 AND TYR-365;

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.