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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03891: Variant p.Asn150Ser

NADH-ubiquinone oxidoreductase chain 2
Gene: MT-ND2
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Variant information Variant position: help 150 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 Asparagine (N) to Serine (S) at position 150 (N150S, p.Asn150Ser). 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 polar (N) to small size and polar (S) 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 150 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 LLTWQKLAPISIMYQISPSL N VSLLLTLSILSIMAGSWGGL 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                         LLTWQKLAPISIMYQISPSLNVSL--------LLTLS-ILSIMAGSWGGL

Gorilla                       LLTWQKLAPMSIMYQISSSTNVSL--------LLTLS-ILS

                              LLTWQKIAPMSILYQISPSINTNL--------LMLMA-LTS

Chimpanzee                    LLTWQKLAPISIMYQISSSLNVNL--------LLTLS-ILS

Mouse                         LLTWQKIAPLSILIQIYPLLNSTI--------ILMLA-ITS

Rat                           LLTWQKIAPLSILYQFYQLLNPTI--------TTILA-ISS

Pig                           LLTWQKLAPLSVLCQISQSINPNL--------MLTMA-MLS

Bovine                        LLTWQKLAPMSVLYQIFPSINLNL--------ILTLS-VLS

Rabbit                        LLTWQKLAPLSILYQISPSINPTM--------MMSVA-ILS

Goat                          LLTWQKLVPMSVLYQILPSINLDL--------ILTLS-ILS

Sheep                         LLTWQKLAPMSVLYQILPSINLDL--------ILTLS-ILS

Cat                           LLTWQKIAPLSILYQISSTINPNL--------ILTMS-ILS

Horse                         LLTWQKLAPMSILYQISPSINLNI--------LLTMA-VLS

Chicken                       LSTLMKLPPITLLLLTSQSLNTTL--------LTLLA-ISS

Xenopus laevis                LSTWQKLAPMAILYQIAPMLNTPL--------LLTLG-LTS

Zebrafish                     LSTWQKLAPMALIIQTTQTTDPLI--------LTSLG-IAS

Caenorhabditis elegans        FLTFQKLPFLTILLQIF-WLSSVY--------ILLFG-LLI

Drosophila                    LMTWQKIAPLMLI----SYLNIKY--------LLLISVILS

Slime mold                    LTITQKIVTIIVLINLYKNLITYLNIEVINKGLLVLI-LVT

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.