Table 3 Location of missense variants in the collagen IV α5 chain in different variant databases.

From: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Number of missense variants

Number of amino acids (% of total)

ClinVar

ARUP

HGMD

LOVD

Total

1691 (100%)

487

347

430

639

Amino NC domain

41 (2%)

4 (1%)

0

7 (2%) (p = 0.34)

1 (0%) (p < 0.0001)

Intermediate collagenous domain

1418 (84%)

427 (88%)

303 (87%)

368 (86%)

565 (88%) (p = 0.006)

Carboxy NC domain

231 (14%)

56 (11%)

44 (13%)

55 (13%)

73 (11%) (p = 0.17)

  1. p values indicate the difference in the number of missense variants found in the region according to this database compared with the expected number based on the number of amino acids in this domain using Fisher’s exact test.
Back to article page