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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03923: Variant p.Ala74Val

NADH-ubiquinone oxidoreductase chain 6
Gene: MT-ND6
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Variant information Variant position: help 74 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 Alanine (A) to Valine (V) at position 74 (A74V, p.Ala74Val). 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 hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Variant description: help In MELAS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 74 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 174 The length of the canonical sequence.
Location on the sequence: help MVFLIYLGGMMVVFGYTTAM A IEEYPEAWGSGVEVLVSVLV 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                         MVFLIYLGGMMVVFGYTTAMAIEEYPE-----AWGSGVEVLVSVLV

Gorilla                       MVFLIYLGGMMVVFGYTTAMAIGEYPE-----AWGSGVEVL

                              MVFLIYLGGMLVVFGYTTAMATEQYPE-----VWVSNKAVL

Chimpanzee                    MVFLIYLGGMMVVFGYTTAMAIEEYPE-----AWGSGVEVL

Mouse                         MVFLIYLGGMLVVFGYTTAMATEEYPE-----TWGSNWLIL

Rat                           MVFLIYLGGMLVVFGYTTAMATEEYPE-----TWGSNWFIF

Pig                           MVFLIYLGGMLVVFGYTTAMATEMYPE-----VWVSNKTVF

Bovine                        MVFLIYLGGMMVVFGYTTAMATEQYPE-----IWLSNKAVL

Rabbit                        MMFLIYLGGMLVVFGYTTAMATEEYPE-----TWGSNVMIL

Sheep                         MVFLIYLGGMMVVFGYTTAMATEQYPE-----VWVSNKVVL

Cat                           MVFLIYLGGMLVVFGYTTAMATEPYPE-----AWTSNKAVL

Horse                         MVFLIYLGGMLVVFGYTTAMATEQYPE-----VWVSNTTVM

Chicken                       ALFLVYLGGMLVVFVYSVSLAADPYPE-----AWG-DWRVV

Xenopus laevis                VLFLIYLGGMLVVFAYSAARA-KPYPE-----AWGS-WSVV

Zebrafish                     ILFLIYLGGMLVVFAYSAALAAEPFPE-----AWGDRVVFW

Caenorhabditis elegans        FICLLFLSGIFVILVYFSSL---------------SKINVV

Drosophila                    ILFLIFLGGMLVLFIYVTSLASNEMFNLSMKLTLFSSLILI

Slime mold                    IYILVNVGAIAVLFLFIVMMININIVE-----IQETMKKYN

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 – 174 NADH-ubiquinone oxidoreductase chain 6



Literature citations
An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.
Ravn K.; Wibrand F.; Hansen F.J.; Horn N.; Rosenberg T.; Schwartz M.;
Eur. J. Hum. Genet. 9:805-809(2001)
Cited for: VARIANT MELAS VAL-74;
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.