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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03901: Variant p.Ile61Thr

NADH-ubiquinone oxidoreductase chain 4L
Gene: MT-ND4L
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Variant information Variant position: help 61 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Isoleucine (I) to Threonine (T) at position 61 (I61T, p.Ile61Thr). 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 medium size and hydrophobic (I) to medium size and polar (T) 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



Sequence information Variant position: help 61 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 98 The length of the canonical sequence.
Location on the sequence: help FIMATLMTLNTHSLLANIVP I AMLVFAACEAAVGLALLVSI 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                         FIM--ATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSI

Gorilla                       FIM--ATLMTLNTHFLLANIVPITMLVFAACEAAVGLALLV

                              FVM--MSVTILNNHLTLASMMPIVLLVFAACEAALGLSLLV

Rhesus macaque                FIM--ATLIASNTHFPLINIMPIILLVFAACETAVGLALLI

Chimpanzee                    FIM--ATLMTLNTHSLLANIVPITMLVFAACEAAVGLALLV

Mouse                         FIM--TSVTSLNSNSMSSMPIPITILVFAACEAAVGLALLV

Rat                           FVM--TSTSTLNSNSMISMTIPITILVFAACEAAVGLALLV

Pig                           FIM--STLIILNTHFTLANMMPIILLVFAACEAALGLSLLV

Bovine                        FVM--AALTILNSHFTLASMMPIILLVFAACEAALGLSLLV

Rabbit                        FVL--ITLTALNTHFTLSFMFPIILLVFAACEAAVGLALLV

Goat                          FIM--ATLMILNSHFTLASMMPIILLVFAACEAALGLSLLV

Sheep                         FIL--ATLMILNSHFTLASMMPIILLVFAACEAALGLSLLV

Cat                           FIM--MAVAILNNHLTLASMTPIILLVFAACEAALGLSLLV

Horse                         FVM--ATMMVLNTHFTLASMMPIILLVFAACERALGLSLLV

Chicken                       FIP--LSIWPVENQTPSFALVPILMLAFSACEAGTGLAMLV

Xenopus laevis                MDG--IVLTPLHLTIYLSSMMLYIMLPFAAPEAATGLSLNS

Zebrafish                     FIS--MALWTLKTESMSLSTAPMLLLAFSACEASAGLALLV

Caenorhabditis elegans        F---------LKFSYVLGEMMFFYFMCFSVISSILGMVVMV

Drosophila                    FFMLFIYLNMLNYESYFSMM----FLTFSVCEGALGLSILV

Slime mold                    GML--FVLASVELNDILGELSGLYILTFTAAESAIGLAIVV

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 – 98 NADH-ubiquinone oxidoreductase chain 4L
Transmembrane 58 – 78 Helical



Literature citations
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
Marzuki S.; Noer A.S.; Lertrit P.; Thyagarajan D.; Kapsa R.; Utthanaphol P.; Byrne E.;
Hum. Genet. 88:139-145(1991)
Cited for: VARIANTS ILE-36; SER-57 AND THR-61;
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.