| Phenotype: | Hematuria, benign familial |
|---|---|
| Dna Change: | c.4001G>A |
| Protein Change: | p.Gly1334Glu |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 45 |
| Transcript: | NM_000091.4 |
| Phenotype: | Alport syndrome, autosomal recessive |
|---|---|
| Dna Change: | c.2611G>T |
| Protein Change: | p.Gly871Cys |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 32 |
| Transcript: | NM_000091.4 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Albania | NA | Northern (province of Bergam) | 43 unrelated families | from 3100 to 3350 years ago | Caleca L et al., 2014Caleca L, Putignano AL, Colombo M, Congregati C, Sarkar M, Magliery TJ, Ripamonti CB, Foglia C, Peissel B, Zaffaroni D, Manoukian S, Tondini C, Barile M, Pensotti V, Bernard L, Papi L, Radice P, . Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.. PLoS ONE. 2014; 9(2):e86924 |
| Cyprus | NA | NA | 3 families/13 families | NA | Voskarides K et al., 2007Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C, . COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.. J. Am. Soc. Nephrol.. 2007; 18(11):3004-16 |
Caleca L, Putignano AL, Colombo M, Congregati C, Sarkar M, Magliery TJ, Ripamonti CB, Foglia C, Peissel B, Zaffaroni D, Manoukian S, Tondini C, Barile M, Pensotti V, Bernard L, Papi L, Radice P, Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.PLoS ONE. 2014; 9(2):e86924
Papazachariou L, Demosthenous P, Pieri M, Papagregoriou G, Savva I, Stavrou C, Zavros M, Athanasiou Y, Ioannou K, Patsias C, Panagides A, Potamitis C, Demetriou K, Prikis M, Hadjigavriel M, Kkolou M, Loukaidou P, Pastelli A, Michael A, Lazarou A, Arsali M, Damianou L, Goutziamani I, Soloukides A, Yioukas L, Elia A, Zouvani I, Polycarpou P, Pierides A, Voskarides K, Deltas C, Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.PLoS ONE. 2014; 9(12):e115015
Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C, COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.J. Am. Soc. Nephrol.. 2007; 18(11):3004-16
Voskarides K, Patsias C, Pierides A, Deltas C, COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.Genet. Test.. 2008; 12(2):273-8