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UniProtKB/Swiss-Prot Q9BZB8: Variant p.Met233Ile

Cytoplasmic polyadenylation element-binding protein 1
Gene: CPEB1
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Variant information Variant position: help 233
Type of variant: help LB/B
Residue change: help From Methionine (M) to Isoleucine (I) at position 233 (M233I, p.Met233Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1


Sequence information Variant position: help 233
Protein sequence length: help 566
Location on the sequence: help FLSLSGGGPRDPLKMGVGSR M DQEQAALAAVTPSPTSASKR
Residue conservation: help 
Human                         FLSLSGGGPRDPLKMGVGSRMDQEQAALAAVTPSPTSAS-----KR

Mouse                         FLSMTGNGPRDPLKMGVGSRMDQEQAALAAVAPSPTSAP--

Rat                           FLSMTGNGPRDPLKMGVGSRMDQEQAALAAVAPSPTSAP--

Zebrafish                     FL--MSSMQRDPLKLALDSRMDHSSSPL---TPPPSASPSG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 566 Cytoplasmic polyadenylation element-binding protein 1



Literature citations
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Verdura E.; Herve D.; Scharrer E.; del Mar Amador M.; Guyant-Marechal L.; Philippi A.; Corlobe A.; Bergametti F.; Gazal S.; Prieto-Morin C.; Beaufort N.; Le Bail B.; Viakhireva I.; Dichgans M.; Chabriat H.; Haffner C.; Tournier-Lasserve E.;
Brain 138:2347-2358(2015)
Cited for: VARIANTS GLU-8 DEL AND ILE-233;
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.