Variant position: 1122 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1233 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 NPEEPYLDGINYNCVAPGKR FRPMDNLSGGEKTVAALALLF
Mouse NPEEPYLDGINYNCVAPGKR FRPMDNLSGGEKTVAALALLF
Rat NPEEPYLDGINYNCVAPGKR FRPMDNLSGGEKTVAALALLF
Bovine NPEEPYLDGINYNCVAPGKR FRPMDNLSGGEKTVAALALLF
Xenopus laevis NPEEPYLDGINYNCVAPGKR FRPMDNLSGGEKTVAALALLF
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
1 – 1233 Structural maintenance of chromosomes protein 1A
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation.
Deardorff M.A.; Kaur M.; Yaeger D.; Rampuria A.; Korolev S.; Pie J.; Gil-Rodriguez C.; Arnedo M.; Loeys B.; Kline A.D.; Wilson M.; Lillquist K.; Siu V.; Ramos F.J.; Musio A.; Jackson L.S.; Dorsett D.; Krantz I.D.;
Am. J. Hum. Genet. 80:485-494(2007)
Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122;
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
Liu J.; Feldman R.; Zhang Z.; Deardorff M.A.; Haverfield E.V.; Kaur M.; Li J.R.; Clark D.; Kline A.D.; Waggoner D.J.; Das S.; Jackson L.G.; Krantz I.D.;
Hum. Mutat. 30:1535-1542(2009)
Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123;
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.