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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00846: Variant p.Ser148Asn

ATP synthase subunit a
Gene: MT-ATP6
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Variant information Variant position: help 148 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 Serine (S) to Asparagine (N) at position 148 (S148N, p.Ser148Asn). 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 Change from small size and polar (S) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In MLASA3. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 148 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 FLPQGTPTPLIPMLVIIETI S LLIQPMALAVRLTANITAGH 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                         FLPQGTPTPLIPM-LVIIETISLLIQPMALAVRLTANITAGH

Gorilla                       LLPQGTPTPLIPM-LVIIETISLFIQPMALAVRLTANITAG

                              FLPQGTPLPLIPM-LVVIETISLFIQPMALAVRLTANITAG

Chimpanzee                    FLPQGTPTPLIPM-LVIIETISLLIQPMALAVRLTANITAG

Mouse                         FLPQGTPISLIPM-LIIIETISLFIQPMALAVRLTANITAG

Rat                           FLPQGTPISLIPM-LIIIETISLFIQPMALAVRLTANITAG

Pig                           FLPQGTPALLIPM-LVIIETISLFIQPVALAVRLTANITAG

Bovine                        FLPQGTPTPLIPM-LVIIETISLFIQPMALAVRLTANITAG

Rabbit                        FLPQGTPIPLIPM-LIVIETISLFIQPMALAVRLTANITAG

Goat                          FYPQGTPTPLIPM-LVIIETISLFIQPMALAVRLTANITAG

Sheep                         FLPQGTPTPLIPM-LVIIETISLFIQPVALAVRLTANITAG

Cat                           FLPQGTPVPLIPM-LVVIETISLFIQPMALAVRLTANITAG

Horse                         FLPQGTPIFLIPM-LVIIETISLFIQPVALAVRLTANITAG

Chicken                       LLPEGTPTPLIPA-LIMIETTSLLIRPLALGVRLTANLTAG

Xenopus laevis                LLPEGTPTPLIPV-LIIIETISLFIRPLALGVRLTANLTAG

Zebrafish                     LLPEGTPIPLIPA-LIIIETISLFIRPLALGVRLTANLTAG

Caenorhabditis elegans        YMSKPGDTYLKTLSMLLIEIVSEFSRPLALTVRLTVNITVG

Drosophila                    LVPQGTPAILMPF-MVCIETISNIIRPGTLAVRLTANMIAG

Slime mold                    FVPSGIEPWLLPL-LVFIEIMSYVLRPISLAVRLFANMLAG

Baker's yeast                 FVPAGTPLPLVPL-LVIIETLSYFARAISLGLRLGSNILAG

Fission yeast                 FLPSGTPTPLIPL-LVLIEFVSYIARGLSLGIRLGANIIAG
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
Transmembrane 138 – 158 Helical
Helix 140 – 180



Literature citations
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.
Burrage L.C.; Tang S.; Wang J.; Donti T.R.; Walkiewicz M.; Luchak J.M.; Chen L.C.; Schmitt E.S.; Niu Z.; Erana R.; Hunter J.V.; Graham B.H.; Wong L.J.; Scaglia F.;
Mol. Genet. Metab. 113:207-212(2014)
Cited for: INVOLVEMENT IN MLASA3; VARIANT MLASA3 ASN-148;
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.