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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75677: Variant p.Met127Thr

Ret finger protein-like 1
Gene: RFPL1
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Variant information Variant position: help 127
Type of variant: help LB/B
Residue change: help From Methionine (M) to Threonine (T) at position 127 (M127T, p.Met127Thr).
Physico-chemical properties: help Change from medium size and hydrophobic (M) to medium size and polar (T)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 127
Protein sequence length: help 317
Location on the sequence: help EPKLKKILQMNPRMRKFQVD M TLDADTANNFLLISDDLRSV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 317 Ret finger protein-like 1
Domain 107 – 301 B30.2/SPRY



Literature citations
Duplications on human chromosome 22 reveal a novel Ret finger protein-like gene family with sense and endogenous antisense transcripts.
Seroussi E.; Kedra D.; Pan H.-Q.; Peyrad M.; Schwartz C.; Scambler P.; Donnai D.; Roe B.A.; Dumanski J.P.;
Genome Res. 9:803-814(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS THR-127 AND LEU-139 DEL; A genome annotation-driven approach to cloning the human ORFeome.
Collins J.E.; Wright C.L.; Edwards C.A.; Davis M.P.; Grinham J.A.; Cole C.G.; Goward M.E.; Aguado B.; Mallya M.; Mokrab Y.; Huckle E.J.; Beare D.M.; Dunham I.;
Genome Biol. 5:R84.1-R84.11(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS THR-127 AND LEU-139 DEL; 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] OF 22-317; VARIANTS THR-127 AND LEU-139 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.