Variant position: 254 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1163 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 ST----------QSFPPS----------------LMSKSNSMLQKP TAYV-------------RPMDGQESMEPKLSSE------------------H
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 – 1163 AF4/FMR2 family member 4
102 – 461 Ser-rich
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Izumi K.; Nakato R.; Zhang Z.; Edmondson A.C.; Noon S.; Dulik M.C.; Rajagopalan R.; Venditti C.P.; Gripp K.; Samanich J.; Zackai E.H.; Deardorff M.A.; Clark D.; Allen J.L.; Dorsett D.; Misulovin Z.; Komata M.; Bando M.; Kaur M.; Katou Y.; Shirahige K.; Krantz I.D.;
Nat. Genet. 47:338-344(2015)
Cited for: INVOLVEMENT IN CHOPS; VARIANTS CHOPS ALA-254; SER-254 AND TRP-258;
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