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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03891: Variant p.Ile159Thr

NADH-ubiquinone oxidoreductase chain 2
Gene: MT-ND2
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Variant information Variant position: help 159 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 159 (I159T, p.Ile159Thr). 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 159 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 347 The length of the canonical sequence.
Location on the sequence: help ISIMYQISPSLNVSLLLTLS I LSIMAGSWGGLNQTQLRKIL 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                         ISIMYQISPSLNVSL--------LLTLS-ILSIMAGSWGGLNQTQLRKIL

Gorilla                       MSIMYQISSSTNVSL--------LLTLS-ILSILAGSWGGL

                              MSILYQISPSINTNL--------LMLMA-LTSVLVGGWGGL

Chimpanzee                    ISIMYQISSSLNVNL--------LLTLS-ILSIMAGSWGGL

Mouse                         LSILIQIYPLLNSTI--------ILMLA-ITSIFMGAWGGL

Rat                           LSILYQFYQLLNPTI--------TTILA-ISSVFVGAWGGL

Pig                           LSVLCQISQSINPNL--------MLTMA-MLSILIGGWGGL

Bovine                        MSVLYQIFPSINLNL--------ILTLS-VLSILIGGWGGL

Rabbit                        LSILYQISPSINPTM--------MMSVA-ILSIMVGGWGGL

Goat                          MSVLYQILPSINLDL--------ILTLS-ILSIMIGGWGGL

Sheep                         MSVLYQILPSINLDL--------ILTLS-ILSITIGGWGGL

Cat                           LSILYQISSTINPNL--------ILTMS-ILSVMIGGWGGL

Horse                         MSILYQISPSINLNI--------LLTMA-VLSILVGGWGGL

Chicken                       ITLLLLTSQSLNTTL--------LTLLA-ISSTLIGGWMGL

Xenopus laevis                MAILYQIAPMLNTPL--------LLTLG-LTSTLIGGWGGL

Zebrafish                     MALIIQTTQTTDPLI--------LTSLG-IASSLIGGWSGL

Caenorhabditis elegans        LTILLQIF-WLSSVY--------ILLFG-LLICYVQIF---

Drosophila                    LMLI----SYLNIKY--------LLLISVILSVIIGAIGGL

Slime mold                    IIVLINLYKNLITYLNIEVINKGLLVLI-LVTLIVGTVGSL

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 – 347 NADH-ubiquinone oxidoreductase chain 2
Transmembrane 149 – 169 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 LEU-42; ARG-63; ALA-119; PRO-148; SER-150; THR-159 AND ALA-185;
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.