Variant position: 930 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1230 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 ERYTCRYCGKIFPRSANLTR HLRTHTGEQPYRCKYCDRSFS
Mouse ERYTCRYCGKIFPRSANLTR HLRTHTGEQPYRCKYCDRSFS
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 – 1230 Histone-lysine N-methyltransferase MECOM
912 – 934 C2H2-type 8
170 – 1230 Missing. In isoform 9.
Mutations in MECOM, encoding oncoprotein EVI1, cause radioulnar synostosis with amegakaryocytic thrombocytopenia.
Niihori T.; Ouchi-Uchiyama M.; Sasahara Y.; Kaneko T.; Hashii Y.; Irie M.; Sato A.; Saito-Nanjo Y.; Funayama R.; Nagashima T.; Inoue S.; Nakayama K.; Ozono K.; Kure S.; Matsubara Y.; Imaizumi M.; Aoki Y.;
Am. J. Hum. Genet. 97:848-854(2015)
Cited for: INVOLVEMENT IN RUSAT2; VARIANTS RUSAT2 TRP-929; ARG-930 AND ALA-935; CHARACTERIZATION OF VARIANTS RUSAT2 TRP-929; ARG-930 AND ALA-935;
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