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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q7Z7A1: Variant p.Val56Ile

Centriolin
Gene: CNTRL
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Variant information Variant position: help 56
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 56 (V56I, p.Val56Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 56
Protein sequence length: help 2325
Location on the sequence: help SPLIGSETLPFHSGGQWCEQ V EIADENNMLLDYQDHKGADS
Residue conservation: help 
Human                         SPLIGSETLPFHSGGQWCEQVEIADENNMLLDYQDHKGADS

Mouse                         SPLIGSETQPLHPGGQWPAQAELTDESTVPLEPQQRKGAES
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2325 Centriolin
Alternative sequence 1 – 1818 Missing. In isoform 4.
Alternative sequence 1 – 1331 Missing. In isoform 3.
Alternative sequence 1 – 552 Missing. In isoform 2.



Literature citations
A novel human protein of the maternal centriole is required for the final stages of cytokinesis and entry into S phase.
Gromley A.; Jurczyk A.; Sillibourne J.; Halilovic E.; Mogensen M.; Groisman I.; Blomberg M.; Doxsey S.J.;
J. Cell Biol. 161:535-545(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ILE-56; SUBCELLULAR LOCATION; FUNCTION;
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.