Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03923: Variant p.Tyr59Cys

NADH-ubiquinone oxidoreductase chain 6
Gene: MT-ND6
Feedback?
Variant information Variant position: help 59 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 Tyrosine (Y) to Cysteine (C) at position 59 (Y59C, p.Tyr59Cys). 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 large size and aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In LHON. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 59 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 GCVIILNFGGGYMGLMVFLI Y LGGMMVVFGYTTAMAIEEYP 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                         GCVIILNFGGGY-MGLMVFLIYLGGMMVVFGYTTAMAIEEYP

Gorilla                       GCAIILNCGGGY-MGLMVFLIYLGGMMVVFGYTTAMAIGEY

                              GCAIVLNFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEQY

Chimpanzee                    GCAIILNYGGGY-MGLMVFLIYLGGMMVVFGYTTAMAIEEY

Mouse                         GCLMVLGFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEEY

Rat                           GCLMVLGFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEEY

Pig                           GCGIVLNFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEMY

Bovine                        GCGIVLNFGGSF-LGLMVFLIYLGGMMVVFGYTTAMATEQY

Rabbit                        GCGIVLSFGGSF-LGLMMFLIYLGGMLVVFGYTTAMATEEY

Sheep                         GCGIVLNFGGSF-LGLMVFLIYLGGMMVVFGYTTAMATEQY

Cat                           GCGIVLNFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEPY

Horse                         GCGIIMNFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEQY

Chicken                       GCGWLVSLGVSF-VSLALFLVYLGGMLVVFVYSVSLAADPY

Xenopus laevis                GCLVIVSFGSSF-LSIVLFLIYLGGMLVVFAYSAARA-KPY

Zebrafish                     GCGILVSYGGSF-LSLILFLIYLGGMLVVFAYSAALAAEPF

Caenorhabditis elegans        --MPVISMSMHIWFSYFICLLFLSGIFVILVYFSSL-----

Drosophila                    VCLLTGLMTKSFWYSYILFLIFLGGMLVLFIYVTSLASNEM

Slime mold                    YASILLTVEMEF-LACIYILVNVGAIAVLFLFIVMMININI
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
Transmembrane 47 – 67 Helical



Literature citations
Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.
Leo-Kottler B.; Christ-Adler M.; Baumann B.; Zrenner E.; Wissinger B.;
Ger. J. Ophthalmol. 5:233-240(1996)
Cited for: VARIANT LHON CYS-59;
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.