Variant position: 298 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 527 The length of the canonical sequence.
Location on the sequence:
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 YHNEEDEEEDGGEEGMDEQY RQICNMYTMYSMMNVGQTAEK
Mouse YHNEEDEEEDAGEEGTDEQY RQICNMYTMYSMLNVGQTAEK
Rat YHNEEDEEEDAGEEGTDEQY RQICNMYTMYSMLNVGQTVEK
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
1 – 527 Nucleus accumbens-associated protein 1
318 – 318 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay.
Schoch K.; Meng L.; Szelinger S.; Bearden D.R.; Stray-Pedersen A.; Busk O.L.; Stong N.; Liston E.; Cohn R.D.; Scaglia F.; Rosenfeld J.A.; Tarpinian J.; Skraban C.M.; Deardorff M.A.; Friedman J.N.; Akdemir Z.C.; Walley N.; Mikati M.A.; Kranz P.G.; Jasien J.; McConkie-Rosell A.; McDonald M.; Wechsler S.B.; Freemark M.; Kansagra S.; Freedman S.; Bali D.; Millan F.; Bale S.; Nelson S.F.; Lee H.; Dorrani N.; Goldstein D.B.; Xiao R.; Yang Y.; Posey J.E.; Martinez-Agosto J.A.; Lupski J.R.; Wangler M.F.; Shashi V.;
Am. J. Hum. Genet. 100:343-351(2017)
Cited for: INVOLVEMENT IN NECFM; VARIANT NECFM TRP-298;
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