ABCMdb

ABCC9 p.Ile146Asn

None has been submitted yet.

Publications

PMID: 25341504 [PubMed] Beziau DM et al: "Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations."

No. Sentence Comment

129 The J point elevation and the coved type ST-segment elevation observed in high precordial lead (V1H, V2H, V3H recorded at the third ICS) remained significant after the test and after correction of conduction disturbance Table 1 Clinical and genetic data of the family members ID Age (year) Basal ECG ECG during ajmaline challenge Genetic results PR (ms) QRS (ms) QT (ms) QTc (ms) T-wave aspect QRS aspect ST-segment amplitude (mm) ST-segment aspect Result of the ajmaline challenge PR (ms) QRS (ms) ST-segment amplitude (mm) ST-segment aspect SCN5A CACNA1C ABCC9 I-2 85 160 80 360 412 Normal Normal 0 Normal 0 NA NA NA NA NC NC I146N II-1 62 180 95 340 350 Tall Normal 0 Normal Negative 200 120 0 Normal NC N300D NC II-2 49 138 70 318 385 Normal Normal 0 Normal Positive 171 104 6 Coved NC NC I146N II-3 52 200 100 322 347 Normal Normal 0 Normal Positive 270 120 3 Coved NC N300D NC II-4 57 200 120 368 385 Normal Normal 0 Normal Negative 200 120 0 Normal Q1695* NC NC III-1 26 200 120 380 370 Normal Parietal bloc 1 Saddle back Positive 220 200 3 Coved Q1695* N300D NC III-2 23 206 108 351 347 Tall Normal 1 Normal Positive 240 200 3 Coved Q1695* N300D NC III-3 20 140 95 340 340 Tall Normal 0 Normal Positive 200 110 10 Coved NC N300D NC III-4 19 140 80 335 348 Tall Normal 0 Normal Negative 160 90 2 Saddle back NC N300D NC NA not available, NC non carrier Fig. 2 a Pedigree, phenotype and genotype of the family. Login to comment
148 In this patient, we found a rare SNP (rs149325742, MAF = 0.0077 %) corresponding to the substitution of A[T at the position chr12:22070007, leading to an amino acid changing an isoleucine to an asparagine in position 146 (p.I146N). Login to comment