UniProtKB/Swiss-Prot Q3ZCQ8: Variant p.Arg114Trp

Mitochondrial import inner membrane translocase subunit TIM50
Gene: TIMM50
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Variant information Variant position:

114 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 114 (R114W, p.Arg114Trp). 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 MGCA9; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1300848445 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NGAKIPDEFDNDPILVQQLR R TYKYFKDYRQMIIEPTSPCL 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                         NGAKIPD-----EFDNDPILVQQLRRTYKYFK---DYRQMIIEP-TSPCL

Mouse                         NGTKIPD-----EFDSDPILVQQLRRTYKYFK---DYRQMI

Bovine                        NGAKIPD-----EFDNDPILVQQLRRTYKYFK---DYRQMI

Zebrafish                     QGNKIPD-----EFDNDVPVIQQLRRTFKYFK---DYRQMI

Caenorhabditis elegans        FGNVISD-----EFSG--SFLAPFYRIANSFK---LWRDYV

Slime mold                    ERYRLNSVESKFYHSIAEPFREFFDNIFENLRTKYEFFDML

Baker's yeast                 ESEELKK-----DIDNGYTLSLMYKRFKARFN---SMFTYF

Fission yeast                 EKELEKQ-----YPAAGYSPSDWWNRVKARTN---NFFSYY

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	45 – 353	Mitochondrial import inner membrane translocase subunit TIM50
Topological domain	87 – 353	Mitochondrial intermembrane
Alternative sequence	12 – 124	Missing. In isoform 3.

Literature citations
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
Shahrour M.A.; Staretz-Chacham O.; Dayan D.; Stephen J.; Weech A.; Damseh N.; Pri Chen H.; Edvardson S.; Mazaheri S.; Saada A.; Hershkovitz E.; Shaag A.; Huizing M.; Abu-Libdeh B.; Gahl W.A.; Azem A.; Anikster Y.; Vilboux T.; Elpeleg O.; Malicdan M.C.;
Clin. Genet. 91:690-696(2017)
Cited for: INVOLVEMENT IN MGCA9; VARIANTS MGCA9 TRP-114 AND MET-149;

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.