UniProtKB/Swiss-Prot P00846: Variant p.Thr178Ala

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

178 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 Threonine (T) to Alanine (A) at position 178 (T178A, p.Thr178Ala). 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 (T) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs1556423599 [ dbSNP | Ensembl ]

Sequence information Variant position:

178 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:

VRLTANITAGHLLMHLIGSA T LAMSTINLPSTLIIFTILIL 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                         VRLTANITAGHLL-MHLIGSATLAMSTINLPSTLIIFT---ILIL

Gorilla                       VRLTANITAGHLL-MHLIGSATLAMSTTNLPSTLIIFT---

                              VRLTANITAGHLL-IHLIGGATLALINISATTAFITFI---

Chimpanzee                    VRLTANITAGHLL-MHLIGSATLALSTINLPYALIIFT---

Mouse                         VRLTANITAGHLL-MHLIGGATLVLMNISPPTATITFI---

Rat                           VRLTANITAGHLL-MHLIGGATLVLMDISPPTATITFI---

Pig                           VRLTANITAGHLL-IHLIGGATLALLNINTMTAFITFT---

Bovine                        VRLTANITAGHLL-IHLIGGATLALMSISTTTALITFT---

Rabbit                        VRLTANITAGHLL-MHLIGGAALALVSISPTTALITFI---

Goat                          VRLTANITAGHLL-IHLIGGATLALTSISPTTALITFI---

Sheep                         VRLTANITAGHLL-IHLIGGATLALMSINTTTALITFI---

Cat                           VRLTANITAGHLL-MHLIGGAALALMNISTSIALITFT---

Horse                         VRLTANITAGHLL-MHLIGGATLALMSISPSTALITFI---

Chicken                       VRLTANLTAGHLL-IQLISTATIALLPMMPSISALTAL---

Xenopus laevis                VRLTANLTAGHLL-IQLIATAAFVLLSIMPTVAILTSI---

Zebrafish                     VRLTANLTAGHLL-IQLIATAVFVLLPMMPAVAILTAS---

Caenorhabditis elegans        VRLTVNITVGHLVSMMLYQGLELSMGDQY------IWL---

Drosophila                    VRLTANMIAGHLL-LTLLGNTGPSMSYILVTFLLMAQI---

Slime mold                    VRLFANMLAGHLL-IHIIGVAAIYLMQFY-FIGILPWI---

Baker's yeast                 LRLGSNILAGHLL-MVILAGLTFNFMLINLFTLVFGFVPLA

Fission yeast                 IRLGANIIAGHLT-MSILGGLIFTFMGLNLITFIIGFLPIT

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	164 – 184	Helical
Helix	140 – 180

Literature citations
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.