Sequence information
Variant position: 454 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1630 The length of the canonical sequence.
Location on the sequence:
SETWSDAPPSRVSVIQFLEA
P IGDEDAEEAAAEKRGLQRRA
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 SETW-SDAPPSRVSVIQFLEAP IGDEDAEEAAAEKRGLQRRA
Mouse SESC-SDAPLSRVSVIQFEDTL EGEEDAEEAAAEKRGLQRR
Zebrafish DEAWPTDTNLNRVSVIQFRDDS KHEEEDDETAADKRGLQRR
Drosophila SEPF-EEREPSR-TVVKFSEEA TQEKETP--------FVRQ
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 – 1630
Protein scribble homolog
Region
1 – 818
Sufficient for targeting to adherens junction and to inhibit cell proliferation
Literature citations
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
Robinson A.; Escuin S.; Doudney K.; Vekemans M.; Stevenson R.E.; Greene N.D.; Copp A.J.; Stanier P.;
Hum. Mutat. 33:440-447(2012)
Cited for: VARIANTS NTD SER-454 AND GLN-1535; CHARACTERIZATION OF VARIANTS NTD SER-454 AND GLN-1535;
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.