UniProtKB/Swiss-Prot Q96AG3: Variant p.Glu335Asp

Mitochondrial outer membrane protein SLC25A46
Gene: SLC25A46
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Variant information Variant position:

335 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 Glutamate (E) to Aspartate (D) at position 335 (E335D, p.Glu335Asp). 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:

In HMSN6B; uncertain significance; slightly decreased protein abundance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1057518748 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PELIANFAASLCSDVILYPL E TVLHRLHIQGTRTIIDNTDL 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                         PELIANFAASLCSDVILYPLETVLHRLHIQGTRTIIDNTDL

Mouse                         PELIANFAASLCSDVILYPLETVLHRLHIQGTRTIIDNTDL

Rat                           PELIANFAASLCSDVILYPLETVLHRLHIQGTRTIIDNTDL

Chicken                       PELIASFAASLCADVMLYPLETVLHRLHIQGTRTIIDNTDL

Xenopus tropicalis            PELIANFAASLCADVLLYPLETVLHRLHIQGTRTIIDNTDL

Zebrafish                     PELMASFAASLCADVLLFPLETVLHRLHIQGTRTIIDNTDL

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 – 418	Mitochondrial outer membrane protein SLC25A46
Repeat	311 – 413	Solcar 2

Literature citations
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Abrams A.J.; Hufnagel R.B.; Rebelo A.; Zanna C.; Patel N.; Gonzalez M.A.; Campeanu I.J.; Griffin L.B.; Groenewald S.; Strickland A.V.; Tao F.; Speziani F.; Abreu L.; Schuele R.; Caporali L.; La Morgia C.; Maresca A.; Liguori R.; Lodi R.; Ahmed Z.M.; Sund K.L.; Wang X.; Krueger L.A.; Peng Y.; Prada C.E.; Prows C.A.; Schorry E.K.; Antonellis A.; Zimmerman H.H.; Abdul-Rahman O.A.; Yang Y.; Downes S.M.; Prince J.; Fontanesi F.; Barrientos A.; Nemeth A.H.; Carelli V.; Huang T.; Zuchner S.; Dallman J.E.;
Nat. Genet. 47:926-932(2015)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH IMMT; INVOLVEMENT IN HMSN6B; VARIANTS HMSN6B ASP-249; LEU-333; ASP-335 AND CYS-340; Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J.; Steffen J.; Yourshaw M.; Mamsa H.; Andersen E.; Rudnik-Schoeneborn S.; Pope K.; Howell K.B.; McLean C.A.; Kornberg A.J.; Joseph J.; Lockhart P.J.; Zerres K.; Ryan M.M.; Nelson S.F.; Koehler C.M.; Jen J.C.;
Brain 139:2877-2890(2016)
Cited for: INVOLVEMENT IN PCH1E; VARIANT PCH1E PRO-341; CHARACTERIZATION OF VARIANT PCH1E PRO-341; CHARACTERIZATION OF VARIANTS HMSN6B ASP-249; LEU-333; ASP-335; CYS-340; FUNCTION; SUBCELLULAR LOCATION;

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.