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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00846: Variant p.Leu217Pro

ATP synthase subunit a
Gene: MT-ATP6
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Variant information Variant position: help 217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Leucine (L) to Proline (P) at position 217 (L217P, p.Leu217Pro). 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: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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
Variant description: help In LS and MIBSN. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 226 The length of the canonical sequence.
Location on the sequence: help ILLTILEIAVALIQAYVFTL L VSLYLHDNT 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ILLTILEIAVALIQAYVFTLLVSLYLHDNT---

Gorilla                       ILLTMLEIAVALIQAYVFTLLVSLYLHENT

                              ILLTILEFAVALIQAYVFTLLVSLYLHDNT

Chimpanzee                    ILLTILEIAVALIQAYVFTLLVSLYLHDNT

Mouse                         LLLTILEFAVALIQAYVFTLLVSLYLHDNT

Rat                           LLLTVLEFAVALIQAYVFTLLVSLYLHDNT

Pig                           ILLTILEFAVALIQAYVFTLLVSLYLHDNT

Bovine                        ILLTILEFAVAMIQAYVFTLLVSLYLHDNT

Rabbit                        ILLTILEFAVALIQAYVFTLLVSLYLHDNT

Goat                          ILLTILEFELGTREAYVFTLLVSLYLHDNT

Sheep                         ILLTVLEFAVAMIQAYVFTLLVSLYLHDNT

Cat                           ILLTILEFAVALIQAYVFTLLVSLYLHDNT

Horse                         ILLTILEFAVAMIQAYVFTLLVSLYLHDNT

Chicken                       FLLTILEVAVAMIQAYVFVLLLSLYLQENI

Xenopus laevis                FLLTLLEIAVAMIQAYVFVLLLSLYLQENV

Zebrafish                     FLLTLLEVAVAMIQAYVFILLLSLYLQENI

Caenorhabditis elegans        LAI-MMECFVFFIQSYIFSRLIFLYLNE--

Drosophila                    L---VLESAVAMIQSYVFAVLSTLYSSEVN

Slime mold                    IAFMFLELGIAFLQAYVFVLLTLIYIANII

Baker's yeast                 LAIMMLEFAIGIIQGYVWAILTASYLKDAV

Fission yeast                 VAISLLEFGIAFIQAYVFAILTCGFINDSL
Sequence annotation in neighborhood: help 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 – 226 ATP synthase subunit a
Helix 186 – 223



Literature citations
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
Thyagarajan D.; Shanske S.; Vazquez-Memije M.; De Vivo D.C.; Dimauro S.;
Ann. Neurol. 38:468-472(1995)
Cited for: VARIANT MIBSN PRO-217; Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
Campos Y.; Martin M.A.; Rubio J.C.; Solana L.G.; Garcia-Benayas C.; Terradas J.L.; Arenas J.;
Neurology 49:595-597(1997)
Cited for: VARIANT LS PRO-217; Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
Dionisi-Vici C.; Seneca S.; Zeviani M.; Fariello G.; Rimoldi M.; Bertini E.; De Meirleir L.;
J. Inherit. Metab. Dis. 21:2-8(1998)
Cited for: VARIANT LS PRO-217;
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.