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UniProtKB/Swiss-Prot P00846: Variant p.Leu156Arg

ATP synthase subunit a
Gene: MT-ATP6
Chromosomal location: M
Variant information

Variant position:  156
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Leucine (L) to Arginine (R) at position 156 (L156R, p.Leu156Arg).
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 (L) to large size and basic (R)
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

Involvement in disease:  Neuropathy, ataxia, and retinitis pigmentosa (NARP) [MIM:551500]: A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy. {ECO:0000269|PubMed:2137962}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Involvement in disease:  Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269|PubMed:17352390, ECO:0000269|PubMed:8395787, ECO:0000269|PubMed:9270604, ECO:0000269|PubMed:9501263, ECO:0000269|PubMed:9556461}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In NARP and LS.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  156
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:   PLIPMLVIIETISLLIQPMA  L AVRLTANITAGHLLMHLIGS
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                         PLIPM-LVIIETISLLIQPMALAVRLTANITAGHLL-MHLIG--S

Gorilla                       PLIPM-LVIIETISLFIQPMALAVRLTANITAGHLL-MHLI

                              PLIPM-LVVIETISLFIQPMALAVRLTANITAGHLL-IHLI

Chimpanzee                    PLIPM-LVIIETISLLIQPMALAVRLTANITAGHLL-MHLI

Mouse                         SLIPM-LIIIETISLFIQPMALAVRLTANITAGHLL-MHLI

Rat                           SLIPM-LIIIETISLFIQPMALAVRLTANITAGHLL-MHLI

Pig                           LLIPM-LVIIETISLFIQPVALAVRLTANITAGHLL-IHLI

Bovine                        PLIPM-LVIIETISLFIQPMALAVRLTANITAGHLL-IHLI

Rabbit                        PLIPM-LIVIETISLFIQPMALAVRLTANITAGHLL-MHLI

Goat                          PLIPM-LVIIETISLFIQPMALAVRLTANITAGHLL-IHLI

Sheep                         PLIPM-LVIIETISLFIQPVALAVRLTANITAGHLL-IHLI

Cat                           PLIPM-LVVIETISLFIQPMALAVRLTANITAGHLL-MHLI

Horse                         FLIPM-LVIIETISLFIQPVALAVRLTANITAGHLL-MHLI

Chicken                       PLIPA-LIMIETTSLLIRPLALGVRLTANLTAGHLL-IQLI

Xenopus laevis                PLIPV-LIIIETISLFIRPLALGVRLTANLTAGHLL-IQLI

Zebrafish                     PLIPA-LIIIETISLFIRPLALGVRLTANLTAGHLL-IQLI

Caenorhabditis elegans        YLKTLSMLLIEIVSEFSRPLALTVRLTVNITVGHLVSMMLY

Drosophila                    ILMPF-MVCIETISNIIRPGTLAVRLTANMIAGHLL-LTLL

Slime mold                    WLLPL-LVFIEIMSYVLRPISLAVRLFANMLAGHLL-IHII

Baker's yeast                 PLVPL-LVIIETLSYFARAISLGLRLGSNILAGHLL-MVIL

Fission yeast                 PLIPL-LVLIEFVSYIARGLSLGIRLGANIIAGHLT-MSIL

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 – 226 ATP synthase subunit a
Transmembrane 138 – 158 Helical


Literature citations

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
Holt I.J.; Harding A.E.; Petty R.K.; Morgan-Hughes J.A.;
Am. J. Hum. Genet. 46:428-433(1990)
Cited for: VARIANT NARP ARG-156;

De novo mtDNA nt 8993 (T-G) mutation resulting in Leigh syndrome.
Takahashi S.; Makita Y.; Oki J.; Miyamoto A.; Yanagawa J.; Naito E.; Goto Y.; Okuno A.;
Am. J. Hum. Genet. 62:717-719(1998)
Cited for: VARIANT LS ARG-156;

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.