Table 3.

Collagen 4A3 and collagen 4A4 mutations

Patient IDMutation 1Mutation 2Previous Report of ARAS
GenePosition (Exon)Nucleotide ChangeAmino Acid ChangeGenePosition (Exon)Nucleotide ChangeAmino Acid Change
72COL4A429c.2510G>Cp.Gly837AlaYes
122COL4A347c.4217G>Aap.Gly1406GluCOL4A432c.2869G>Ap.Gly957AspYes
124COL4A422c.1323_1340dela18-bp Deletion
129COL4A335c.2980+2T>AaExon skipping
140COL4A347c.4217G>Aap.Gly1406GluCOL4A432c.2869G>Ap.Gly957AspYes
148COL4A425c.1808A>Gap.Asp603Gly
153COL4A424c.1733G>Tp.Gly577ValYes
154COL4A431c.2726G>Aap.Gly909Glu
161COL4A326c.1855G>ApGly619ArgYes
175COL4A340c.3499G>Ap.Gly1167ArgYes
198COL4A326c.1901G>Ap.Gly634Glu
205COL4A326c.1855G>Ap.Gly619ArgYes
279COL4A420c.1323_1340dela18-bp Deletion
285COL4A430c.2641del Cap.His881fs
297COL4A427c.2084G>Aap.Gly695Asp
305COL4A340c.3464G>Aap.Gly1155Asp
  • ID, identification; ARAS, autosomal recessive Alport syndrome; COL4A4, collagen 4A4; COL4A3, collagen 4A3.

  • a Novel mutation.