Sequence information
Variant position: 149 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2647 The length of the canonical sequence.
Location on the sequence:
IVDGNLKLILGLIWTLILHY
S ISMPMWDEEEDEEAKKQTPK
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 IVDGNLKLILGLIWTLILHYS ISMPMWDEEEDEE--AKKQTPK
Mouse IVDGNLKLILGLIWTLILHYS ISMPMWDEEEDEE--AKKQT
Drosophila IVDCKLKLILGLIWTLILHYS ISMPMWDGEDDKQLNGSGHT
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
2 – 2647
Filamin-A
Domain
43 – 149
Calponin-homology (CH) 1
Region
2 – 274
Actin-binding
Cross
135 – 135
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Mutagenesis
135 – 135
K -> R. Abrogates ASB2alpha-mediated degradation without altering ASB2alpha binding; when associated with R-42 and R-43.
Helix
134 – 149
Literature citations
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Guerrini R.; Mei D.; Sisodiya S.M.; Sicca F.; Harding B.; Takahashi Y.; Dorn T.; Yoshida A.; Campistol J.; Kraemer G.; Moro F.; Dobyns W.B.; Parrini E.;
Neurology 63:51-56(2004)
Cited for: VARIANTS PVNH1 VAL-102 AND PHE-149;
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.