Skip to main content

Table 3 Comparison of publicly available mutated keratin 14 and keratin 10 sequence data of various skin disease patients with mutated sequence obtained in our study (psoriasis) from Clinvar NCBI database

From: Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity

S. no. Name Gene(s) Condition(s) Clinical significance (Last reviewed) GRCh37 GRCh38 Variation ID Allele ID(s)
Chromosome Location Chromosome Location
1 NM_000526.4(KRT14):c.1264G > A (p.Glu422Lys) KRT14 EBH-DM Pathogenic (Apr 1, 2000) 17 39739497 17 41583245 14623 29662
2 NM_000526.4(KRT14):c.1256T > A (p.Leu419Gln) KRT14 EBH-DM Pathogenic (Apr 1, 2000) 17 39739505 17 41583253 14622 29661
3 NM_000526.4(KRT14):c.1243T > C (p.Tyr415His) KRT14 EBH-DM Pathogenic (Mar 27, 2015) 17 39739518 17 41583266 14621 29660
4 NM_000526.4(KRT14):c.1237G > A (p.Ala413Thr) KRT 14 Not provided Pathogenic (Jul 31, 2012) 17 39739524 17 41583272 66319 77216
5 NM_000526.4(KRT14):c.1234A > T (p.Ile412Phe) KRT14 Not provided Pathogenic (Apr 2, 2018) 17 39739527 17 41583275 66317 77214
6 NM_000526.4(KRT14):c.1228C > T (p.Gln410Ter) KRT14 Not provided Pathogenic (Sep 15, 2016) 17 39739533 17 41583281 66313 77210
7 NM_000526.4(KRT14):c.1162C > T (p.Arg388Cys) KRT14 Not provided Pathogenic (Oct 13, 2017) 17 39739599 17 41583347 66306 77203
8 NM_000526.4(KRT14):c.1151T > C (p.Leu384Pro) KRT14 EBS, Koebner type Pathogenic (Nov 22, 1991) 17 39739610 17 41583358 14611 29650
9 NM_000526.4(KRT14):c.442C > T (p.Arg148Cys) KRT14 EBS, Koebner type Pathogenic (Apr 2, 2018) 17 39742645 17 41586393 66368 77265
10 NM_000526.4(KRT14):c.374G > A (p.Arg125His) KRT14 EBH-DM Pathogenic (Oct 30, 2017) 17 39742713 17 41586461 14613 29652
11 NM_000526.4(KRT14):c.357G > A (p.Met119Ile) KRT14 EBS, autosomal recessive Pathogenic (Sep 1, 1997) 17 39742730 17 41586478 14620 29659
12 NM_000421.3(KRT10):c.1374-2A > C KRT10 Not provided Pathogenic (Nov 25, 2015) 17 38975415 17 40819163 449615 445767
13 NM_000421.3(KRT10):c.1374-2A > G KRT10 EI, congenital reticular Pathogenic (Oct 1, 2010) 17 38975415 17 40819163 14581 29620
14 NM_000421.3(KRT10):c.1373 + 2T > C KRT10 Not provided Pathogenic (May 9, 2017) 17 38975767 17 40819515 432261 426219
15 NM_000421.3(KRT10):c.1373 + 1G > A KRT10 EI, congenital reticular Pathogenic (Oct 1, 2010) 17 38975768 17 40819516 14582 29621
16 NM_000421.3(KRT10):c.1325T > A (p.Leu442Gln) KRT10 BIE Pathogenic (Feb 1, 1994) 17 38975817 17 40819565 14575 29614
17 NM_000421.3(KRT10):c.1300C > T (p.Gln434Ter) KRT10 BIE Pathogenic (Apr 1, 2006) 17 38975842 17 40819590 29764 38719
18 NM_000421.3(KRT10):c.1281C > A (p.Cys427Ter) KRT10 BIE Pathogenic (Jul 1, 2008) 17 38975861 17 40819609 29765 38720
19 NM_000421.3(KRT10):c.494G > C (p.Arg165Pro) KRT10 Not provided Likely pathogenic (Sep 1, 2016) 17 38978344 17 40822092 432167 426220
20 NM_000421.3(KRT10):c.482T > C (p.Leu161Ser) KRT10 BIE Pathogenic (Aug 21, 1992) 17 38978356 17 40822104 14569 29608
21 NM_000421.3(KRT10):c.479A > C (p.Tyr160Ser) KRT10 Not provided Pathogenic (Apr 2, 2018) 17 38978359 17 40822107 66178 77075
22 NM_000421.3(KRT10):c.478T > G (p.Tyr160Asp) KRT10 BIE Pathogenic (Feb 1, 1994) 17 38978360 17 40822108 14572 29611
23 NM_000421.3(KRT10):c.467G > A (p.Arg156His) KRT10 BIE Pathogenic (Sep 20, 2017) 17 38978371 17 40822119 14573 29612
24 NM_000421.3(KRT10):c.460A > C (p.Asn154His) KRT10 BIE Pathogenic (Feb 1, 1994) 17 38978378 17 40822126 14571 29610
  1. EBH-DM epidermolysis bullosa herpetiformis-Dowling Meara, EBS epidermolysis bullosa simplex, EI erythroderma ichthyosiform, BIE Bullous ichthyosiform erythroderma
  2. Italicized words indicate comparison of identical mutation obtained in our study (psoriasis) with other skin disease