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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y3A5: Variant p.Arg126Thr

Ribosome maturation protein SBDS
Gene: SBDS
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Variant information Variant position: help 126
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Threonine (T) at position 126 (R126T, p.Arg126Thr).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (T)
BLOSUM score: help -1
Variant description: help In SDS1; strongly reduced release of EIF6 from pre-60S ribosome subunits.
Other resources: help


Sequence information Variant position: help 126
Protein sequence length: help 250
Location on the sequence: help QMFRDIATIVADKCVNPETK R PYTVILIERAMKDIHYSVKT
Residue conservation: help 
Human                         QMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKT

Mouse                         QMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKP

Rat                           QMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKP

Bovine                        QMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKP

Chicken                       QMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKP

Xenopus laevis                QMFRDIATIVADKCVNPETKRPYTVNLIERAMKDIHYSVKA

Xenopus tropicalis            QMFRDIATIVADKCVNPETKRPYTVNLIERAMKDIHYSVKA

Caenorhabditis elegans        QSLKEVSQLIASMVVNPETKRPVPPSVIDKALQEMHFSLKP

Slime mold                    QTFKDIATIVAEKCVNTETQRPIPVSIIEKAMKDVHYSIHP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 250 Ribosome maturation protein SBDS



Literature citations
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Boocock G.R.B.; Morrison J.A.; Popovic M.; Richards N.; Ellis L.; Durie P.R.; Rommens J.M.;
Nat. Genet. 33:97-101(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS SDS1 LYS-8; GLY-44; GLU-67; SER-87; THR-126 AND CYS-169; VARIANT THR-212; Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
Finch A.J.; Hilcenko C.; Basse N.; Drynan L.F.; Goyenechea B.; Menne T.F.; Gonzalez Fernandez A.; Simpson P.; D'Santos C.S.; Arends M.J.; Donadieu J.; Bellanne-Chantelot C.; Costanzo M.; Boone C.; McKenzie A.N.; Freund S.M.; Warren A.J.;
Genes Dev. 25:917-929(2011)
Cited for: STRUCTURE BY NMR; FUNCTION; CHARACTERIZATION OF VARIANT SDS1 THR-126; MUTAGENESIS OF LYS-151;
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.