Variant position: 347 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 735 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 ERSTVLINQAEHILKENDQA RFLQSAKNIAERVAMATASSQ
Mouse ERSTVLINQAEHILKENDQA RFLQSAKNIAERVAMATASSQ
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 – 735 Probable E3 ubiquitin-protein ligase MID2
340 – 399 COS
Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.
Geetha T.S.; Michealraj K.A.; Kabra M.; Kaur G.; Juyal R.C.; Thelma B.K.;
Hum. Mutat. 35:41-44(2014)
Cited for: FUNCTION; INVOLVEMENT IN MRX101; VARIANT MRX101 GLN-347; VARIANT SER-343; CHARACTERIZATION OF VARIANT MRX101 GLN-347; CHARACTERIZATION OF VARIANT SER-343;
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