UniProtKB/SwissProt variant VAR

Filamin-C
Gene: FLNC
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Variant information Variant position:

123
Type of variant:

LP/P [Disclaimer]
Residue change:

From Valine (V) to Alanine (A) at position 123 (V123A, p.Val123Ala).
Physico-chemical properties:

Change from medium size and hydrophobic (V) to small size and hydrophobic (A)
BLOSUM score:

0
Variant description:

In CMH26; increased aggregation; localized in perinuclear region of cytoplasm.
Other resources:

Variant rs1562991002 [ dbSNP | Ensembl ]

Sequence information Variant position:

123
Protein sequence length:

2725
Location on the sequence:

ALEFLEREHIKLVSIDSKAI V DGNLKLILGLIWTLILHYSI
Residue conservation:

Human                         ALEFLEREHIKLVSIDSKAIVDGNLKLILGLIWTLILHYSI

Mouse                         ALEFLEREHIKLVSIDSKAIVDGNLKLILGLIWTLILHYSI

Rat                           ALEFLEREHIKLVSIDSKAIVDGNLKLILGLIWTLILHYSI

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 2725	Filamin-C
Domain	36 – 142	Calponin-homology (CH) 1
Region	1 – 259	Actin-binding

Literature citations
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
Valdes-Mas R.; Gutierrez-Fernandez A.; Gomez J.; Coto E.; Astudillo A.; Puente D.A.; Reguero J.R.; Alvarez V.; Moris C.; Leon D.; Martin M.; Puente X.S.; Lopez-Otin C.;
Nat. Commun. 5:5326-5326(2014)
Cited for: INVOLVEMENT IN CMH26; VARIANTS CMH26 ALA-123; LYS-290; THR-1539; HIS-2133; SER-2151 AND VAL-2430; CHARACTERIZATION OF VARIANTS CMH26 ALA-123; THR-1539; HIS-2133 AND VAL-2430; SUBCELLULAR LOCATION;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14315: Variant p.Val123Ala