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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UHK0: Variant p.Ser36Arg

FMR1-interacting protein NUFIP1
Gene: NUFIP1
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Variant information Variant position: help 36
Type of variant: help LB/B
Residue change: help From Serine (S) to Arginine (R) at position 36 (S36R, p.Ser36Arg).
Physico-chemical properties: help Change from small size and polar (S) to large size and basic (R)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 36
Protein sequence length: help 495
Location on the sequence: help ASPELTPTLGPLSDTAPPRD S WMFWAMLPPPPPPLTSSLPA
Residue conservation: help 
Human                         ASPELTPTLGPLSDTAPPRDSWMFWAMLPPPPPPLTSSLPA

Mouse                         SAPDLTPAPGTPSEAAPPRDNWVYWAMLPPPPPPLSS--PV

Rat                           SAPELTPAPGTPSEAAPPQDNWVYWAMLPPPPPPLSS--PV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 495 FMR1-interacting protein NUFIP1
Region 1 – 108 Disordered



Literature citations
A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein.
Bardoni B.; Schenck A.; Mandel J.-L.;
Hum. Mol. Genet. 8:2557-2566(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ARG-36; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH FMR1;
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.