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UniProtKB/Swiss-Prot P03928: Variant p.Met28Thr

ATP synthase protein 8
Gene: MT-ATP8
Chromosomal location: M
Variant information

Variant position:  28
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Methionine (M) to Threonine (T) at position 28 (M28T, p.Met28Thr).
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 (M) 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.



Sequence information

Variant position:  28
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  68
The length of the canonical sequence.

Location on the sequence:   VWPTMITPMLLTLFLITQLK  M LNTNYHLPPSPKPMKMKNYN
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                         VWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYN

Gorilla                       VWPTMIAPMLLTLFLITQLKVLNTNYHLPPLPKTMKMKNFC

                              TWFIMIFSMFLTLFILFQLKISNHYYPENPMTKSAKIAGQH

Chimpanzee                    VWPTMITPMLLTLFLVTQLKMLNSNYHLPPSPKPMKMKNYN

Mouse                         TWFITIISSMITLFILFQLKVSSQTFPLAPSPKSLTTMKVK

Rat                           TWFITIISSMATLFILFQLKISSQTFPAPPSPKTMATEKTN

Pig                           TWFITITSMIMTLFILFQLKISNYSYPASPESIELKTQKHS

Bovine                        TWLTMILSMFLTLFIIFQLKVSKHNFYHNPELTPTKMLKQN

Rabbit                        TWFTTIVAMILSLFILMQLKFHKYTYPMNPVLKALESTSFP

Goat                          TWLTTILSMFLALFIIFQLKISKYDFYHNPEL-TAKMLKHN

Sheep                         TWLTMILSMFLVLFIIFQLKISKHNFYHNPELMTTKTPKQN

Cat                           TWSITIMSMIMTLFIVFQLKISKYLYPSNPEPKSMTTLKQR

Horse                         TWFINIVSMILTLFIVFQLKISKHSYPTHPEVKTTKMTKHS

Chicken                       PWFSIMLLTWFTFSLLIQPKLLSFTLTNNPANKITTTK--P

Xenopus laevis                PWFLILIFSWLVLLTFIPPKVLKHKAFNEPTTQTTEKSK-P

Zebrafish                     PWFMILFFSWVIFLTIIPTKIINHIQPNDPTQVDAKEHK-N

Drosophila                    SWLLLFIIFSITFILFCSINYYSY-MPNSPKSNELKNIN-L

Baker's yeast                 -YFMNQLTYGFLLMITLLILFSQFFLPM-------------

Fission yeast                 -YFINILSFGFLIFTVLLYISSVYVLPR-------------

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.

TypePositionsDescription
Chain 1 – 68 ATP synthase protein 8


Literature citations

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.
Rieder M.J.; Taylor S.L.; Tobe V.O.; Nickerson D.A.;
Nucleic Acids Res. 26:967-973(1998)
Cited for: VARIANT THR-28;

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.