UniProtKB/Swiss-Prot P00846: Variant p.His90Tyr

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

90 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 90 (H90Y, p.His90Tyr). 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
Other resources:

Links to websites of interest for the variant.

Variant rs2298007 [ dbSNP | Ensembl ]

Sequence information Variant position:

90 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:

LMLVSLIIFIATTNLLGLLP H SFTPTTQLSMNLAMAIPLWA 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                         L---MLVSLIIFI--ATTNLLGLLPHSFTPTTQLSMNLAMAIPLWA

Gorilla                       L---MLMWLIIFI--ATTNLLGLLPHSFTPTTQLSMNLAMA

                              L---MLMSLILFI--GSTNLLGLLPHSFTPTTQLSMNLGMA

Chimpanzee                    L---MLVSLIIFI--TTTNLLGLLPHSFTPTTQLSMNLAMA

Mouse                         L---MIVSLIMFI--GSTNLLGLLPHTFTPTTQLSMNLSMA

Rat                           L---MIVSLIMFI--GSTNLLGLLPHTFTPTTQLSMNLSMA

Pig                           L---MLMSLIMFI--GSTNILGLLPHSFTPTTQLSMNLGMA

Bovine                        L---MLMSLILFI--GSTNLLGLLPHSFTPTTQLSMNLGMA

Rabbit                        L---MLISLIMFI--GSTNLLGLLPHSFTPTTQLSMNLGMA

Goat                          L---MLMSLILFI--GSTNLLGLLPHSFTPTTQLSMNLGMA

Sheep                         L---MLMSLILFI--GSTNLLGLLPHSFTPTTQLSMNLGMA

Cat                           L---MLMSLILFI--GSTNLLGLLPHSFTPTTQLSMNLGMA

Horse                         L---MLMSLILFI--GSTNLLGLLPHSFTPTTQLSMNLGMA

Chicken                       L---LLTSLILML--LSINLLGLLPYTFTPTTQLSMNMALA

Xenopus laevis                L---LLTSLMLLL--MSLNLLGLLPYTFTPTTQLSLNMGLA

Zebrafish                     L---LFASLMVFL--ITINLLGLLPYTFTPTTQLSLNMGFA

Caenorhabditis elegans        LPLSSVISIFTFIVLLTCCFGGYFTYSFCPCGMVEFTFVYA

Drosophila                    TF--IFISLFSLI--LFNNFMGLFPYIFTSTSHLTLTLSLA

Slime mold                    LFFPFIMSLFLFV--LTLNVMGLIPLSFTVTGQLLVTFTLA

Baker's yeast                 LYFPMIFTLFMFI--FIANLISMIPYSFALSAHLVFIISLS

Fission yeast                 P---FIWSLFVLI--LFSNLLRLIPYGYATTAQLIFTLGLS

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
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; 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; 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.