ABCC7 p.Leu1414Phe
| ClinVar: |
c.4241T>C
,
p.Leu1414Ser
?
, not provided
|
| CF databases: |
c.4241T>C
,
p.Leu1414Ser
(CFTR1)
?
, The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only once, in over 1700 control chromosomes from Italian population.
|
| Predicted by SNAP2: | A: D (53%), C: N (61%), D: D (80%), E: D (75%), F: N (57%), G: D (75%), H: D (71%), I: N (72%), K: D (80%), M: N (97%), N: D (71%), P: D (80%), Q: D (66%), R: D (80%), S: D (63%), T: D (66%), V: N (78%), W: D (71%), Y: N (53%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D, |
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[hide] Identification and frequencies of cystic fibrosis ... Clin Biochem. 2015 Oct 21. pii: S0009-9120(15)00473-7. doi: 10.1016/j.clinbiochem.2015.10.007. Pepermans X, Mellado S, Chialina S, Wagener M, Gallardo L, Lande H, Bordino W, Baran D, Bours V, Leal T
Identification and frequencies of cystic fibrosis mutations in central Argentina.
Clin Biochem. 2015 Oct 21. pii: S0009-9120(15)00473-7. doi: 10.1016/j.clinbiochem.2015.10.007., [PMID:26500004]
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No. Sentence Comment
100 [1727G N C(;)2002C N T] G576A-R668C 1 (0.6) No Yes in trans non CF-causing in trans No p.Ser589Ile c.1766G N T S589I 1 (0.6) No Yes No No NA c.1766 + 1G N A 1898 + 1G N A 1 (0.6) Yes Yes CF-causing rs186089140 p.Ser737Phe c.2210C N T S737F 1 (0.6) No Yes No rs397508376 p.Leu812Phefs*11 c.2434_2435insT 2566insT 1 (0.6) No Yes No No p.Ser821Argfs*4 c.2462_2463delGT 2594delGT 1 (0.6) No Yes CF-causing No p.Tyr852Leufs*44 c.2554dupT c.2554dupT &#a7; 1 (0.6) No No No rs80224560 NA c.2657 + 5G N A 2789 + 5G N A 1 (0.6) No Yes CF-causing rs75096551 NA c.2988 + 1G N A 3120 + 1G N A 1 (0.6) Yes Yes CF-causing rs76151804 NA c.3140-26A N G 3272-26A N G 1 (0.6) No Yes CF-causing rs143570767 NA c.3873 + 1G N A 4005 + 1G N A 1 (0.6) No Yes CF-causing rs397508631 p.Ser1297Phefs*5 c.3884_3885insT 4016insT 1 (0.6) No Yes CF-causing No p.Leu1414Phe c.4242_4242 + 1delGGinsTT 4374_4374 + 1GG N TT 1 (0.6) No Yes No No NA c.1210-12T [5] TG11-5T 1 (0.6) Yes Yes Varying clinical consequence - p.= c.= WT 14 (8.4) NA NA NA HGVS (Human Genoma Variation Society) used for protein nomenclature [15,16].
X
ABCC7 p.Leu1414Phe 26500004:100:832
status: NEW