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
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 |