Sequence information
Variant position: 1146 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1590 The length of the canonical sequence.
Location on the sequence:
TRAGGLGLNLQAADTVVIFD
S DWNPHQDLQAQDRAHRIGQQ
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 TRAGGLGLNLQAADTVVIFDS DWNPHQDLQAQDRAHRIGQQ
Mouse TRAGGLGLNLQAADTVVIFDS DWNPHQDLQAQDRAHRIGQQ
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
Chain
1 – 1590
Probable global transcription activator SNF2L2
Domain
1054 – 1216
Helicase C-terminal
Literature citations
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Van Houdt J.K.; Nowakowska B.A.; Sousa S.B.; van Schaik B.D.; Seuntjens E.; Avonce N.; Sifrim A.; Abdul-Rahman O.A.; van den Boogaard M.J.; Bottani A.; Castori M.; Cormier-Daire V.; Deardorff M.A.; Filges I.; Fryer A.; Fryns J.P.; Gana S.; Garavelli L.; Gillessen-Kaesbach G.; Hall B.D.; Horn D.; Huylebroeck D.; Klapecki J.; Krajewska-Walasek M.; Kuechler A.; Lines M.A.; Maas S.; Macdermot K.D.; McKee S.; Magee A.; de Man S.A.; Moreau Y.; Morice-Picard F.; Obersztyn E.; Pilch J.; Rosser E.; Shannon N.; Stolte-Dijkstra I.; Van Dijck P.; Vilain C.; Vogels A.; Wakeling E.; Wieczorek D.; Wilson L.; Zuffardi O.; van Kampen A.H.; Devriendt K.; Hennekam R.; Vermeesch J.R.;
Nat. Genet. 44:445-449(2012)
Cited for: VARIANTS NCBRS ALA-752; ARG-755; ILE-756; HIS-851; ASP-852; LYS-852; ARG-854; ASN-854; GLY-855; ARG-881; VAL-881; LEU-883; TYR-939; SER-946; PHE-946; CYS-1105; PRO-1105; PRO-1135; ARG-1146; VAL-1158; GLY-1159; LEU-1159; GLN-1159; HIS-1162; PRO-1188; VAL-1201; CYS-1202; GLY-1205 AND TRP-1213;
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.