Variant position: 312 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 594 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 YVMKHYRFTHAEIIAWIRIC RPGSIIGPQQHFLEEKQASLW
Mouse YVMKHYRFTHAEIIAWIRIC RPGSIIGPQQHFLKEKQASLW
Zebrafish YLMKHYRFTSAEAIAWIRIC RPGSIIGPQQHYLEEKQASLW
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 – 594 Dual specificity protein phosphatase CDC14A
177 – 343 B
192 – 594 Missing. In isoform 4.
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Imtiaz A.; Belyantseva I.A.; Beirl A.J.; Fenollar-Ferrer C.; Bashir R.; Bukhari I.; Bouzid A.; Shaukat U.; Azaiez H.; Booth K.T.; Kahrizi K.; Najmabadi H.; Maqsood A.; Wilson E.A.; Fitzgerald T.S.; Tlili A.; Olszewski R.; Lund M.; Chaudhry T.; Rehman A.U.; Starost M.F.; Waryah A.M.; Hoa M.; Dong L.; Morell R.J.; Smith R.J.H.; Riazuddin S.; Masmoudi S.; Kindt K.S.; Naz S.; Friedman T.B.;
Hum. Mol. Genet. 27:780-798(2018)
Cited for: FUNCTION; VARIANTS DFNB32 139-TYR--TYR-594 DEL; GLN-312; GLY-312; PRO-320; 345-ARG--TYR-594 DEL AND 376-ARG--TYR-594 DEL; INVOLVEMENT IN DFNB32;
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