UniProtKB/Swiss-Prot P00846: Variant p.His61Tyr

ATP synthase subunit a
Gene: MT-ATP6
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Variant information Variant position:

61 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 Histidine (H) to Tyrosine (Y) at position 61 (H61Y, p.His61Tyr). 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 polar (H) to large size and aromatic (Y) 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

Sequence information Variant position:

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

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

RLITTQQWLIKLTSKQMMTM H NTKGRTWSLMLVSLIIFIAT 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                         RLITTQQ----WLIKLTSKQMMTMHNTKGRTWSL---MLVSLIIFI--AT

Gorilla                       RLIATQQ----WLIQLTSKQMMTMHNAKGRTWSL---MLMW

                              RLISIQQ----WLIQLTSKQMLAIHNQKGRTWAL---MLMS

Chimpanzee                    RLITTQQ----WLIQLTSKQMMTMHSTKGRTWSL---MLVS

Mouse                         RLHSFQH----WLVKLIIKQMMLIHTPKGRTWTL---MIVS

Rat                           RLHSFQH----WLIKLIIKQMMLIHTPKGRTWAL---MIVS

Pig                           RTISIQQ----WLIQLTSKQMMAIHNQKGQTWSL---MLMS

Bovine                        RFVTLQQ----WMLQLVSKQMMSIHNSKGQTWTL---MLMS

Rabbit                        RLVSTQQ----WLAQLILKQMMLMHSPKGRTWSL---MLIS

Goat                          RLVSLQQ----WALQLMSKQMMSIHNTKGQTWTL---MLMS

Sheep                         RLISLQQ----WMLQLVSKQMMSIHNTKGQTWAL---MLMS

Cat                           RLVSLQQ----WLVQLTSKQMLAIHNHKGQTWAL---MLMS

Horse                         RLISIQQ----WLVQLTSKQMMAIHNSKGQTWTL---MLMS

Chicken                       RLSTIQL----WFTHLITKQLMTPLNKAGHKWAL---LLTS

Xenopus laevis                RLITLQS----WFLHNFTTIFYQLTSP-GHKWAL---LLTS

Zebrafish                     RLITVQT----WLTGRFTNQLMTPLNFSGHKWAL---LFAS

Caenorhabditis elegans        -----------MLNTLVKKFLNSLVGVFSYTNTLPLSSVIS

Drosophila                    RYNIMWN----SILLTLHKEFKTLLGPSGHNGSTF--IFIS

Slime mold                    NWQHIGEMIYEFVVDLIIEQV-------GKPGILFFPFIMS

Baker's yeast                 RWLISQEAIYDTIMNMTKGQI------GGKNWGLYFPMIFT

Fission yeast                 KFGIAMEAIYFTMLNLVENQIHSSKTVSGQSYFP---FIWS

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 – 226	ATP synthase subunit a

Literature citations
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
Marzuki S.; Noer A.S.; Lertrit P.; Thyagarajan D.; Kapsa R.; Utthanaphol P.; Byrne E.;
Hum. Genet. 88:139-145(1991)
Cited for: VARIANTS SER-33; ALA-59; TYR-61; TYR-90; ALA-112; THR-155; ILE-213 AND GLY-219;

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.