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Table 1 Genetic variant test results

From: X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males

Type of pathogenic variant (mutation)

No. of patients (%)

(n = 63)

Hearing

Base or amino acid changes

(N: number of patients; n: number of variants)

Missense

Replacement of glycine

25 (39.68%)

Normal

(N = 17; n = 17)

c.3080G > T*(p.Gly1027Val);c.2723G > A*(p.Gly908Glu);c.395G > A(p.Gly132Glu);c.3383G > A(p.Gly1128Asp);c.892G > C(p.Gly298Arg);c.3508G > A*(p.Gly1170Ser);c.2714G > A*(p.Gly905Asp);c.2858G > T(p.Gly953Val);c.1175G > A(p.Gly325Arg);c.3418G > C(p.Gly1140Arg);c.1121G > T(p.Gly374Val);c.3319G > A*(p.Gly1107Arg);c.2287G > A*(p.Gly763Arg);c.3446G > T(p.Gly1149Val);c.3704G > C(p.Gly1235Ala);c.1861G > T*(p.Gly621Cys);c.2509G > A*(p.Gly837Ser)

Abnormal

Mild(N = 2; n = 2):

c.2605G > A*(p.Gly869Arg);c.1410G > T(p.Gly403Val)

Moderate(N = 6; n = 5):

c.4787G > A(p.Gly1596Asp);c.3704G > A(p.Gly1235Asp);c.1940G > T(p.Gly647Val);c.2678G > T*(p.Gly893Val);c.3170G > A(p.Gly1057Glu)

Replacement of non-glycine

7 (11.11%)

Normal

(N = 5; n = 4):

c.4688G > A(p.Arg1563Gln);c.3713G > A(p.Ala1238Thr);c.4862 T > C(p.Leu1621Ser);c.4427G > T(p.Cys1476Phe)

Abnormal

Moderate(N = 2, n = 2):

c.4186C > T(p.Pro1396Ser);c.1984G > A(p.Ser992Asn)

Rearrangement

9 (14.29%)

Normal

(N = 2; n = 2):

Exon25del*

c.1484-1501delAACCTGGTTTGCCAGGTC(p.Gln495Glyfs*6)

Abnormal

Mild(N = 2; n = 2):

Exon4-37del;

Exon45del

Moderate (N = 5; n = 4):

c.3816-3823delAGGTCTCC(p.Gly1273Trpfs*6);c.1106-1110delAA(p.Lys370Argfs*40);

E42Del;COL4A5E1 + E2-COL4A6E1 + E2 Del;

Exon48-50Del

Splice

7 (11.11%)

Normal

(N = 1; n = 1):

c.456 + 2 T > C

Abnormal

Moderate(N = 5; n = 5):

c.(781-7 T > A);

c.2042-2A > G;

c.IVS24 + 1G > A;

c.4995-2A > G*;

c.2245-2A > G*

Severe(N = 1; n = 1):

c.937 + 5G > A

Nonsense

5 (7.94%)

Normal

(N = 1; n = 1):

c.1117C > T*(p.Arg373*)

Abnormal

Moderate(N = 3; n = 3):

c.3850A > T(p.Lys1284*);c.5038C > T*(p.Arg1680*);c.107C > G*(p.Ser36*)

Severe(N = 1; n = 1):

c.4078G > T(p.G1360*)

Frameshift

10 (15.87%)

Normal

(N = 1; n = 1):

c.2842DelC(p.Leu948Phefs*48)

Abnormal

Mild(N = 1; n = 1):

c.1486-1491insG(p.Pro446*)

Moderate(N = 8; n = 7):

c.3745delG*(p.Gly1249*);c.2471_2473insA(p.Gly825Argfs*30);c.2566_2567delC(p.Pro856Glnfs*18);c.660_662delA(p.Asn221Ilefs*33);c.2080delA(p.Ile694Tryfs*42);c.4782delG(p.Trp1549*);c.1269delA(p.Asp425Tyrfs*49);

  1. Note: Gene variants marked with an asterisk (*) indicate 17 gene variants that have already been reported for their pathogenicity
  2. The accession number for the reference isoform of the COL4A5 gene is NM_033380.2
  3. The mutation that the upper right-hand corner is marked by“*“indicates that the gene mutation has been reported