UniProtKB/Swiss-Prot P03891: Variant p.Gln63Arg

NADH-ubiquinone oxidoreductase chain 2
Gene: MT-ND2
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Variant information Variant position:

63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Glutamine (Q) to Arginine (R) at position 63 (Q63R, p.Gln63Arg). 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:

Change from medium size and polar (Q) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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:

63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

347 The length of the canonical sequence.
Location on the sequence:

VLTKKMNPRSTEAAIKYFLT Q ATASMILLMAILFNNMLSGQ 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         VLTKKMNPR-STEAAIKYFLTQATASMILLMAILFNNMLSGQ

Gorilla                       VLTKKMNPR-STEAAIKYFLTQATASMILLMAILSNNMLSG

                              ILMKKYNPR-AMEASTKYFLTQATASMLLMMGVTINLLYSG

Chimpanzee                    ILTKKMSPR-STEAATKYFLTQATASMILLMAILSNSMLSG

Mouse                         MLINKKNPR-STEAATKYFVTQATASMIILLAIVLNYKQLG

Rat                           LLANKKSPR-STEAATKYFLTQATASMIILLVIILNYKQSG

Pig                           VLMKNFNPR-ATEAATKYFLTQATASMMLMMAIIINLLYSG

Bovine                        IMMKNHNPR-ATEASTKYFLTQSTASMLLMMAVIINLMFSG

Rabbit                        ILINKATPR-STEAATKYFLTQATASMILMMAITLNILDSG

Goat                          IMMKKHNPR-ATAASSDYFLTQSTASMLLMMAIIINLMFSG

Sheep                         IMMKKHNPR-ATEASTKYFLTQSTASMLLMMAIIINLMFSG

Cat                           ILMKKYNPR-AMEAATKYFLTQAAASMILMMWIIINLLHSG

Horse                         ILMKKYNPR-TMEASTKYFLTQATASMLLMMAIIINLMHSG

Chicken                       LISKSHHPR-AIEATIKYFLTQSTASALILFSSMTNAWSTG

Xenopus laevis                LMTQHKHPR-AIEASTKYFLTQAAASALLLFSSLNNAWLTG

Zebrafish                     LMAQQHHPR-AVEATTKYFLIQAAAAAMILFTSTTNAWISG

Caenorhabditis elegans        FILLNKSSK-SYTSIFNYFVIQESLGLLFLLCS--------

Drosophila                    LLSDNNNLM-STEASLKYFLTQVLASTVLLFSSILLMLKNN

Slime mold                    LALNKNSRKVSIEGGLKYYIIGGIASTIILLGIVSIYKNTG

Sequence annotation in neighborhood:

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.

Type	Positions	Description
Chain	1 – 347	NADH-ubiquinone oxidoreductase chain 2
Transmembrane	56 – 76	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.