ABCC6 p.Ala820Pro

LOVD-ABCC6: p.Ala820Pro D
Predicted by SNAP2: C: D (80%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (91%), K: D (95%), L: D (91%), M: D (85%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (91%), T: D (80%), V: D (59%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: C: N, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: N, R: D, S: N, T: N, V: N, W: D, Y: D,

[switch to compact view]
Comments [show]
Publications
[hide] Gheduzzi D, Guidetti R, Anzivino C, Tarugi P, Di Leo E, Quaglino D, Ronchetti IP
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Hum Mutat. 2004 Nov;24(5):438-9., [PMID:15459974]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
J Med Genet. 2005 Dec;42(12):881-92. Epub 2005 May 13., [PMID:15894595]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Ladewig MS, Gotting C, Szliska C, Issa PC, Helb HM, Bedenicki I, Scholl HP, Holz FG
[Pseudoxanthoma elasticum].
Ophthalmologe. 2006 Jun;103(6):537-51; quiz 552-3., [PMID:16763870]

Abstract [show]
Comments [show]
Sentences [show]