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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5JRC9: Variant p.Val232Glu

Protein FAM47A
Gene: FAM47A
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Variant information Variant position: help 232
Type of variant: help LB/B
Residue change: help From Valine (V) to Glutamate (E) at position 232 (V232E, p.Val232Glu).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to medium size and acidic (E)
BLOSUM score: help -2
Polymorphism: help The repeat encompassing Pro-495 to Glu-507 may be polymorphic.
Other resources: help


Sequence information Variant position: help 232
Protein sequence length: help 791
Location on the sequence: help SPEPPKTPVSSLRPEPPETG V SHLRPEPPETGVSHIRPGPP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 791 Protein FAM47A
Region 195 – 257 Disordered



Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS LEU-50; GLU-232 AND 495-PRO--GLU-507 DEL;
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.