Variant position: 126 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 250 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human QMFRDIATIVADKCVNPETK RPYTVILIERAMKDIHYSVKT
Mouse QMFRDIATIVADKCVNPETK RPYTVILIERAMKDIHYSVKP
Rat QMFRDIATIVADKCVNPETK RPYTVILIERAMKDIHYSVKP
Bovine QMFRDIATIVADKCVNPETK RPYTVILIERAMKDIHYSVKP
Chicken QMFRDIATIVADKCVNPETK RPYTVILIERAMKDIHYSVKP
Xenopus laevis QMFRDIATIVADKCVNPETK RPYTVNLIERAMKDIHYSVKA
Xenopus tropicalis QMFRDIATIVADKCVNPETK RPYTVNLIERAMKDIHYSVKA
Caenorhabditis elegans QSLKEVSQLIASMVVNPETK RPVPPSVIDKALQEMHFSLKP
Slime mold QTFKDIATIVAEKCVNTETQ RPIPVSIIEKAMKDVHYSIHP
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
2 – 250 Ribosome maturation protein SBDS
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;
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.