UniProtKB/Swiss-Prot O00217: Variant p.Arg77Trp

NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
Gene: NDUFS8
Feedback?

Variant information Variant position:

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

US 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 Arginine (R) to Tryptophan (W) at position 77 (R77W, p.Arg77Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

In MC1DN2; uncertain significance; decrease in enzyme activity; impaired assembly of complex I. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs146766138 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RTLLWTELFRGLGMTLSYLF R EPATINYPFEKGPLSPRFRG 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                         RTLLWTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRG

Gorilla                       RTLLWTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRG

Chimpanzee                    RTLLWTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRG

Mouse                         RILMWTELIRGLGMTLSYLFREPATINYPFEKGPLSPRFRG

Bovine                        QTLLWTELIRGLGMTLSYLFREPATINYPFEKGPLSPRFRG

Caenorhabditis elegans        HNVFFTELFRGFGVMLGHVFMEPATINYPFEKGPLSSRFRG

Drosophila                    STMFFGELLRGFAVTLAHIFKEPATINYPFEKGPLSPRFRG

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	35 – 210	NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial

Literature citations
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack T.B.; Haberberger B.; Frisch E.M.; Wieland T.; Iuso A.; Gorza M.; Strecker V.; Graf E.; Mayr J.A.; Herberg U.; Hennermann J.B.; Klopstock T.; Kuhn K.A.; Ahting U.; Sperl W.; Wilichowski E.; Hoffmann G.F.; Tesarova M.; Hansikova H.; Zeman J.; Plecko B.; Zeviani M.; Wittig I.; Strom T.M.; Schuelke M.; Freisinger P.; Meitinger T.; Prokisch H.;
J. Med. Genet. 49:277-283(2012)
Cited for: VARIANTS MC1DN2 GLN-63; TRP-77 AND ASP-159; CHARACTERIZATION OF VARIANTS MC1DN2 GLN-63; TRP-77 AND ASP-159; FUNCTION; CATALYTIC ACTIVITY;

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.