Variant position: 39 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:
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 GGVDTRDAEMPATEKDLAED APWKKIQQNTFTRWCNEHLKC
Mouse GSIDSRDAEMPATEKDLAED APWKKIQQNTFTRWCNEHLKC
Drosophila ----------MEAERDLAED AQWKKIQQNTFTRWANEHLKT
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 – 2647 Filamin-A
1 – 39 Disordered
2 – 274 Actin-binding
42 – 42 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
43 – 43 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
42 – 42 K -> R. Abrogates ASB2alpha-mediated degradation without altering ASB2alpha binding; when associated with R-43 and R-135.
43 – 43 K -> R. Abrogates ASB2alpha-mediated degradation without altering ASB2alpha binding; when associated with R-42 and R-135.
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Sheen V.L.; Jansen A.; Chen M.H.; Parrini E.; Morgan T.; Ravenscroft R.; Ganesh V.; Underwood T.; Wiley J.; Leventer R.; Vaid R.R.; Ruiz D.E.; Hutchins G.M.; Menasha J.; Willner J.; Geng Y.; Gripp K.W.; Nicholson L.; Berry-Kravis E.; Bodell A.; Apse K.; Hill R.S.; Dubeau F.; Andermann F.; Barkovich J.; Andermann E.; Shugart Y.Y.; Thomas P.; Viri M.; Veggiotti P.; Robertson S.; Guerrini R.; Walsh C.A.;
Cited for: VARIANT PVNH1 GLY-39;
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