Sequence information
Variant position: 320 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:
THAEIIAWIRICRPGSIIGP
Q QHFLEEKQASLWVQGDIFRS
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 THAEIIAWIRICRPGSIIGPQ QHFLEEKQASLWVQGDIFRS
Mouse THAEIIAWIRICRPGSIIGPQ QHFLKEKQASLWVQGDIFRS
Zebrafish TSAEAIAWIRICRPGSIIGPQ QHYLEEKQASLWAHGDSLRS
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
Chain
1 – 594
Dual specificity protein phosphatase CDC14A
Domain
179 – 336
Tyrosine-protein phosphatase
Region
177 – 343
B
Alternative sequence
192 – 594
Missing. In isoform 4.
Literature citations
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;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.