Variant position: 242 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 356 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 QSPGLPSPPYGTMDSSHVFH VKPPPHAYSAALEPFFESP-LT
Mouse QSPGLPSPPYGTMDSSHVFH VKPPPHAYSAALEPFFESP-L
Rat QSPGLPSPPYGTMDSSHVFH VKPPPHAYSAALEPFFESP-L
Chicken ASPGLPSPPYGTMDSSHLFH LKP-PHAYGAALEPFFEGG-L
Xenopus laevis QSPGLPSPPYGTMDSSHVFH VKP--HSYGAALEPFFDSSTV
Zebrafish QTPGLPSPPYGTMDSSHIFH VKP--HAYGSALEPFFDTT-L
Caenorhabditis elegans ----FSDPSHHQLHPSH--- --PPPHSSFSSSSP------S
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 – 356 Neurogenic differentiation factor 1
259 – 259 Phosphoserine
A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.
Wang F.; Li H.; Xu M.; Li H.; Zhao L.; Yang L.; Zaneveld J.E.; Wang K.; Li Y.; Sui R.; Chen R.;
Invest. Ophthalmol. Vis. Sci. 56:150-155(2015)
Cited for: VARIANT ILE-242;
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