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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H5F2: Variant p.Val40Ala

Cilia- and flagella-associated protein 68
Gene: CFAP68
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Variant information Variant position: help 40
Type of variant: help LB/B
Residue change: help From Valine (V) to Alanine (A) at position 40 (V40A, p.Val40Ala).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to small size and hydrophobic (A)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 40
Protein sequence length: help 150
Location on the sequence: help ACFLTNPHCGSLVNADGHGE V WTDWNNMSKFFQYGWRCTTN
Residue conservation: help 
Human                         ACFLTNPHCGSLVNADGHGEVWTDWNNMSKFFQYGWRCTTN

Mouse                         VCYLRNPHYGSLIYADGHGEVWTDWNDMSKFLQYGWRCTTN

Bovine                        ACFLTNPHYGSLINADGHAEVWTDWNDMSKFFQYGWRCNTN
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 150 Cilia- and flagella-associated protein 68



Literature citations
Characterization of five novel human genes in the 11q13-q22 region.
O'Brien K.P.; Tapia-Paez I.; Staahle-Baeckdahl M.; Kedra D.; Dumanski J.P.;
Biochem. Biophys. Res. Commun. 273:90-94(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; SUBCELLULAR LOCATION; VARIANT ALA-40; Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).
Ebert L.; Schick M.; Neubert P.; Schatten R.; Henze S.; Korn B.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ALA-40;
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.