UniProtKB/Swiss-Prot O00217: Variant p.Arg138His

NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
Gene: NDUFS8
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Variant information Variant position:

138 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 Histidine (H) at position 138 (R138H, p.Arg138His). 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 medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs111033588 [ dbSNP | Ensembl ]

Sequence information Variant position:

138 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:

EAICPAQAITIEAEPRADGS R RTTRYDIDMTKCIYCGFCQE 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                         EAICPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQE

Gorilla                       EAICPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQE

Chimpanzee                    EAICPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQE

Mouse                         EAICPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQE

Bovine                        EAVCPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQE

Caenorhabditis elegans        EAICPAQAITIEAETRPDGSRRTTRYDIDMTKCIYCGLCQE

Drosophila                    EAICPAQAITIEAEERADGSRRTTRYDIDMTKCIYCGFCQE

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
Binding site	121 – 121
Binding site	150 – 150
Binding site	153 – 153
Binding site	156 – 156
Beta strand	138 – 141

Literature citations
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.
Procaccio V.; Wallace D.C.;
Neurology 62:1899-1901(2004)
Cited for: VARIANTS MC1DN2 LEU-85 AND HIS-138;

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.