Variant position: 647 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 954 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 SSNLGELKLLLEEAVMLRRL KSDVLSQLPAKQRKIVVIAPG
Mouse SSNLGELKLLLEEAIMLRRL KSDVLSQLPAKQRKMVVVNPG
Rat SSNLGELKLLLEEAVMLRRL KSDVLSQLPAKQRKMVVVNPG
Bovine SSNLGELKLLLEEAVMLRRL KGDVLSQLPAKQARWWWSPQA
Xenopus laevis SSNLNELKLLLEESIMIRRL KSEVLSQLPAKQRKMVVVAPE
Xenopus tropicalis SSNLNELKLLLEESIMIRRL KSEVLSQLPAKQRKMVVVAPE
Zebrafish SSNLTELKLLLEESLMLRRL KSEVLSQLPAKQRKVVTVTTD
Caenorhabditis elegans CTNSEELAAIMFKRLMIRRL KADVLKDLPEKRREVVYVSGP
Drosophila QSNLEELKVILHLKYMLRRT KVEVLPQLAEKNRETVVLDPA
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 – 954 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Boerkoel C.F.; Takashima H.; John J.; Yan J.; Stankiewicz P.; Rosenbarker L.; Andre J.-L.; Bogdanovic R.; Burguet A.; Cockfield S.; Cordeiro I.; Frund S.; Illies F.; Joseph M.; Kaitila I.; Lama G.; Loirat C.; McLeod D.R.; Milford D.V.; Petty E.M.; Rodrigo F.; Saraiva J.M.; Schmidt B.; Smith G.C.; Spranger J.; Stein A.; Thiele H.; Tizard J.; Weksberg R.; Lupski J.R.; Stockton D.W.;
Nat. Genet. 30:215-220(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANTS SIOD PRO-468; ASN-548; LEU-579; TRP-586; TRP-644; CYS-645; GLN-647; THR-647; ILE-705; GLN-764 AND HIS-820;
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.