UniProtKB/SwissProt variant VAR_075821

Sequence information
Variant position:  340
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:  

NFAASLCSDVILYPLETVLH

 R LHIQGTRTIIDNTDLGYEVL

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                         NFAASLCSDVILYPLETVLHRLHIQGTRTIIDNTDLGYEVL

Mouse                         NFAASLCSDVILYPLETVLHRLHIQGTRTIIDNTDLGYEVL

Rat                           NFAASLCSDVILYPLETVLHRLHIQGTRTIIDNTDLGYEVL

Chicken                       SFAASLCADVMLYPLETVLHRLHIQGTRTIIDNTDLGYEVL

Xenopus tropicalis            NFAASLCADVLLYPLETVLHRLHIQGTRTIIDNTDLGHEVV

Zebrafish                     SFAASLCADVLLFPLETVLHRLHIQGTRTIIDNTDLGFEVL

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.
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.

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