UniProtKB/Swiss-Prot P00846: Variant p.Thr112Ala

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

112 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 112 (T112A, p.Thr112Ala). 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 rs2001031 [ dbSNP | Ensembl ]

Sequence information Variant position:

112 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:

FTPTTQLSMNLAMAIPLWAG T VIMGFRSKIKNALAHFLPQG 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                         FTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQG

Gorilla                       FTPTTQLSMNLAMAIPLWAGAVTTGFRSKTKNALAHLLPQG

                              FTPTTQLSMNLGMAIPLWAGTVITGFRYKTKASLAHFLPQG

Chimpanzee                    FTPTTQLSMNLAMAIPLWAGAVVMGFRFKTKNALAHFLPQG

Mouse                         FTPTTQLSMNLSMAIPLWAGAVITGFRHKLKSSLAHFLPQG

Rat                           FTPTTQLSMNLSMAIPLWAGAVILGFRHKLKNSLAHFLPQG

Pig                           FTPTTQLSMNLGMAIPLWSATVFTGFRYKTKTSLAHFLPQG

Bovine                        FTPTTQLSMNLGMAIPLWAGAVITGFRNKTKASLAHFLPQG

Rabbit                        FTPTTQLSMNLGMAIPLWAGAVITGFRYKTKASLAHFLPQG

Goat                          FTPTTQLSMNLGMAIPLWAGAVITGFRNKTKASLAHFYPQG

Sheep                         FTPTTQLSMNLGMAIPLWGGAVITGFRNKTKASLAHFLPQG

Cat                           FTPTTQLSMNLGMAIPLWAGTVITGFRHKTKASLAHFLPQG

Horse                         FTPTTQLSMNLGMAIPLWAGTVFMGFRHKTKAALAHFLPQG

Chicken                       FTPTTQLSMNMALALPLWLATLLTGLRNQPSASLGHLLPEG

Xenopus laevis                FTPTTQLSLNMGLAVPLWLATVIMASK-PTNYALGHLLPEG

Zebrafish                     FTPTTQLSLNMGFAVPLWLATVIIGMKNQPTIALGHLLPEG

Caenorhabditis elegans        FCPCGMVEFTFVYAAVAWLSTLLT-FISSEK--FSVYMSKP

Drosophila                    FTSTSHLTLTLSLALPLWLCFMLYGWINHTQHMFAHLVPQG

Slime mold                    FTVTGQLLVTFTLAITIMIGITIWGFRIHGIKFLNIFVPSG

Baker's yeast                 FALSAHLVFIISLSIVIWLGNTILGLYKHGWVFFSLFVPAG

Fission yeast                 YATTAQLIFTLGLSISILIGATILGLQQHKAKVFGLFLPSG

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	97 – 117	Helical
Helix	98 – 118

Literature citations
Mitochondrial genome variation and the origin of modern humans.
Ingman M.; Kaessmann H.; Paeaebo S.; Gyllensten U.;
Nature 408:708-713(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS TYR-90; ALA-112 AND LEU-193; 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; Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America.
Silva W.A. Jr.; Bonatto S.L.; Holanda A.J.; Ribeiro-Dos-Santos A.K.; Paixao B.M.; Goldman G.H.; Abe-Sandes K.; Rodriguez-Delfin L.; Barbosa M.; Paco-Larson M.L.; Petzl-Erler M.L.; Valente V.; Santos S.E.; Zago M.A.;
Am. J. Hum. Genet. 71:187-192(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-80; TYR-90 AND ALA-112; Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography.
Maca-Meyer N.; Gonzalez A.M.; Pestano J.; Flores C.; Larruga J.M.; Cabrera V.M.;
BMC Genet. 4:15-15(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-14 AND ALA-112; Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.
Ingman M.; Gyllensten U.;
Genome Res. 13:1600-1606(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-112 AND LEU-193; Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.
Moilanen J.S.; Finnila S.; Majamaa K.;
Mol. Biol. Evol. 20:2132-2142(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-11; THR-60; ALA-112 AND ALA-133; Natural selection shaped regional mtDNA variation in humans.
Mishmar D.; Ruiz-Pesini E.; Golik P.; Macaulay V.; Clark A.G.; Hosseini S.; Brandon M.; Easley K.; Chen E.; Brown M.D.; Sukernik R.I.; Olckers A.; Wallace D.C.;
Proc. Natl. Acad. Sci. U.S.A. 100:171-176(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-60; TYR-90; ALA-112; LEU-117 AND THR-192; 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; The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.
Achilli A.; Rengo C.; Magri C.; Battaglia V.; Olivieri A.; Scozzari R.; Cruciani F.; Zeviani M.; Briem E.; Carelli V.; Moral P.; Dugoujon J.M.; Roostalu U.; Loogvali E.L.; Kivisild T.; Bandelt H.-J.; Richards M.; Villems R.; Santachiara-Benerecetti A.S.; Semino O.; Torroni A.;
Am. J. Hum. Genet. 75:910-918(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-11 AND ALA-112; Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia.
Palanichamy M.G.; Sun C.; Agrawal S.; Bandelt H.-J.; Kong Q.-P.; Khan F.; Wang C.Y.; Chaudhuri T.K.; Palla V.; Zhang Y.-P.;
Am. J. Hum. Genet. 75:966-978(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-7; THR-11; ILE-53; THR-60; ALA-112; VAL-121 AND ILE-213; Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.
Coble M.D.; Just R.S.; O'Callaghan J.E.; Letmanyi I.H.; Peterson C.T.; Irwin J.A.; Parsons T.J.;
Int. J. Legal Med. 118:137-146(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-11; THR-60; ALA-112 AND VAL-192; Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of native american haplogroups.
Starikovskaya E.B.; Sukernik R.I.; Derbeneva O.A.; Volodko N.V.; Ruiz-Pesini E.; Torroni A.; Brown M.D.; Lott M.T.; Hosseini S.H.; Huoponen K.; Wallace D.C.;
Ann. Hum. Genet. 69:67-89(2005)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS TYR-90 AND ALA-112; 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.