Sequence information
Variant position: 347 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1141 The length of the canonical sequence.
Location on the sequence:
KEGERRTTHNIIEKRYRSSI
N DKIIELKDLVMGTDAKMHKS
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 KEGERRTTHNIIEKRYRSSIN DKIIELKDLVMGTDAKMHKS
Mouse KEGERRTTHNIIEKRYRSSIN DKIIELKDLVMGTDAKMHKS
Rat KEGERRTTHNIIEKRYRSSIN DKIIELKDLVMGTDAKMHKS
Xenopus laevis KEGERRTTHNIIEKRYRSSIN DKIMELKDLVMGTDAKMHKS
Zebrafish KEGERRTTHNIIEKRYRSSIN DKILELRDLVLGNDAKMHKS
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 – 1141
Sterol regulatory element-binding protein 2
Chain
1 – 484
Processed sterol regulatory element-binding protein 2
Topological domain
1 – 479
Cytoplasmic
Domain
330 – 380
bHLH
Region
237 – 491
Interaction with LMNA
Helix
346 – 357
Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-273 AND LYS-347;
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.