UniProtKB/SwissProt variant VAR

Variant information

Variant position:

266

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

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:

From Aspartate (D) to Glutamate (E) at position 266 (D266E, p.Asp266Glu).

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:

Similar physico-chemical property. Both residues are medium size and acidic.

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

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:

Probable disease-associated variant found in patients with pathologic myopia; may decrease mitochondrial complex I activity; decreases the production of ATP; decreases reactive oxygen species production.

Any additional useful information about the variant.

Sequence information

Variant position:

266

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

441

The length of the canonical sequence.

Location on the sequence:

DKLRFVLAPSATPAEAFIQH D ETRDHVEVCPDAGVIIEELS

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                         DK--LRFVLAPSATPAEA-FIQ----HDETRDHVEVCPDAGVIIEELS

Mouse                         DK--LRFVLAPCATPAEA-FIQ----RDERREHVEVCPDAG

Rat                           DK--LRFVLAPCATPAEA-FIQ----RDERREHVEVCPDAG

Bovine                        DK--LRFVLAPCATPAGA-FIQ----NDETRDHVEVCPEAG

Xenopus laevis                DK--LRFVLGSNMSLVAKTFVQ----DDEPRDHVEVCPSAA

Xenopus tropicalis            DK--LRFVLGPNVSLVANTFVQ----DDEPRDHVEVCPSAA

Zebrafish                     GK--LRFVVSHRPTLASSTLIQ----KDESRRHVEVCAEAG

Caenorhabditis elegans        GD--LCFMKSKGENLHTKGLIPSAIRDDSSRVTWECSPESG

Drosophila                    AS--FRYVLSRSQTPVSSLYRPL---PGETRSCLEHSLETE

Slime mold                    GEYYLRFVQSKGPTLMTTAVKHLLPEFGLDGYQVELGLAGL

Baker's yeast                 GQKSKSF-------------------DSAIDYSCELALE--

Fission yeast                 LN--EFFTLNTHQKVSSLNYHLA---FQQARINVQQGFSDS

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	47 – 441	Protein arginine methyltransferase NDUFAF7, mitochondrial

Literature citations

A novel potentially causative variant of NDUFAF7 revealed by mutation screening in a chinese family with pathologic myopia.
Wang B.; Liu Y.; Chen S.; Wu Y.; Lin S.; Duan Y.; Zheng K.; Zhang L.; Gu X.; Hong W.; Shao H.; Zeng X.; Sun B.; Duan S.;
Invest. Ophthalmol. Vis. Sci. 58:4182-4192(2017)
Cited for: SUBCELLULAR LOCATION; INVOLVEMENT IN SUSCEPTIBILITY TO PATHOLOGIC MYOPIA; VARIANT GLU-266; CHARACTERIZATION OF VARIANT GLU-266;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q7L592: Variant p.Asp266Glu