ABCC6 p.Met1127Thr

LOVD-ABCC6: p.Met1127Thr D
p.Met1127Ile D
Predicted by SNAP2: A: D (59%), C: N (53%), D: D (80%), E: D (75%), F: N (93%), G: D (71%), H: D (71%), I: N (87%), K: D (75%), L: N (82%), N: D (71%), P: D (85%), Q: D (66%), R: D (80%), S: D (66%), T: D (66%), V: N (87%), W: D (71%), Y: N (57%),
Predicted by PROVEAN: A: N, C: N, D: D, E: D, F: N, G: D, H: N, I: N, K: D, L: N, N: D, P: D, Q: D, R: D, S: D, T: N, V: N, W: N, Y: N,

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[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]

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[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]

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[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]

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