UniProtKB/Swiss-Prot P00846: Variant p.Ile204Thr

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

204 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 Isoleucine (I) to Threonine (T) at position 204 (I204T, p.Ile204Thr). 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 hydrophobic (I) to medium size and polar (T) 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 rs1603222121 [ dbSNP | Ensembl ]

Sequence information Variant position:

204 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:

INLPSTLIIFTILILLTILE I AVALIQAYVFTLLVSLYLHD 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                         INLPSTLIIFT---ILILLTILEIAVALIQAYVFTLLVSLYLHD

Gorilla                       TNLPSTLIIFT---VLILLTMLEIAVALIQAYVFTLLVSLY

                              ISATTAFITFI---ILILLTILEFAVALIQAYVFTLLVSLY

Chimpanzee                    INLPYALIIFT---ILILLTILEIAVALIQAYVFTLLVSLY

Mouse                         ISPPTATITFI---ILLLLTILEFAVALIQAYVFTLLVSLY

Rat                           ISPPTATITFI---ILLLLTVLEFAVALIQAYVFTLLVSLY

Pig                           INTMTAFITFT---ILILLTILEFAVALIQAYVFTLLVSLY

Bovine                        ISTTTALITFT---ILILLTILEFAVAMIQAYVFTLLVSLY

Rabbit                        ISPTTALITFI---ILILLTILEFAVALIQAYVFTLLVSLY

Goat                          ISPTTALITFI---ILILLTILEFELGTREAYVFTLLVSLY

Sheep                         INTTTALITFI---ILILLTVLEFAVAMIQAYVFTLLVSLY

Cat                           ISTSIALITFT---ILILLTILEFAVALIQAYVFTLLVSLY

Horse                         ISPSTALITFI---ILILLTILEFAVAMIQAYVFTLLVSLY

Chicken                       MMPSISALTAL---ILFLLTILEVAVAMIQAYVFVLLLSLY

Xenopus laevis                IMPTVAILTSI---VLFLLTLLEIAVAMIQAYVFVLLLSLY

Zebrafish                     MMPAVAILTAS---VLFLLTLLEVAVAMIQAYVFILLLSLY

Caenorhabditis elegans        QY------IWL---SILAI-MMECFVFFIQSYIFSRLIFLY

Drosophila                    ILVTFLLMAQI---ALL---VLESAVAMIQSYVFAVLSTLY

Slime mold                    FY-FIGILPWI---CVIAFMFLELGIAFLQAYVFVLLTLIY

Baker's yeast                 INLFTLVFGFVPLAMILAIMMLEFAIGIIQGYVWAILTASY

Fission yeast                 LNLITFIIGFLPITVLVAISLLEFGIAFIQAYVFAILTCGF

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
Transmembrane	189 – 209	Helical
Helix	186 – 223

Literature citations
Major genomic mitochondrial lineages delineate early human expansions.
Maca-Meyer N.; Gonzalez A.M.; Larruga J.M.; Flores C.; Cabrera V.M.;
BMC Genet. 2:13-13(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS TYR-90; ALA-112 AND THR-204; Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences.
Kong Q.-P.; Yao Y.-G.; Sun C.; Bandelt H.-J.; Zhu C.-L.; Zhang Y.-P.;
Am. J. Hum. Genet. 73:671-676(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-16; PRO-37; TYR-90; ALA-112; ALA-178; LEU-182 AND THR-204;

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.