Table 4.
Comparison of publicly available mutated keratin 16 and keratin 17 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_005557.3(KRT16):c.395T > C (p.Leu132Pro) | KRT16 | PC 1 | Pathogenic (Jan 29, 2016) | 17 | 39768546 | 17 | 41612294 | 14600 | 29639 |
| 2 | NM_005557.3(KRT16):c.379C > G (p.Arg127Gly) | KRT16 | Not provided | Pathogenic (May 11, 2015) | 17 | 39768562 | 17 | 41612310 | 265217 | 260165 |
| 3 | NM_000422.2(KRT17):c.1163T > C (p.Leu388Pro) | KRT17 | Not provided | Not provided | 17 | 39776929 | 17 | 41620677 | 66181 | 77078 |
| 4 | NM_000422.2(KRT17):c.1112T > C (p.Leu371Pro) | KRT17 | Not provided | Not provided | 17 | 39776980 | 17 | 41620728 | 66180 | 77077 |
| 5 | NM_000422.2(KRT17):c.325A > G (p.Asn109Asp) | KRT17 | Not provided | Not provided | 17 | 39780437 | 17 | 41624185 | 66188 | 77085 |
| 6 | NM_000422.2(KRT17):c.309T > C (p.Arg103=) | KRT17 | Not provided | Not provided | 17 | 39780453 | 17 | 41624201 | 66187 | 77084 |
| 7 | NM_000422.2(KRT17):c.304G > A (p.Val102Met) | KRT17 | PC 2 | Pathogenic (Mar 1, 2002) | 17 | 39780458 | 17 | 41624206 | 14599 | 29638 |
| 8 | NM_000422.2(KRT17):c.296T > C (p.Leu99Pro) | KRT17 | PC 2 | Pathogenic (Jun 9, 2015) | 17 | 39780466 | 17 | 41624214 | 14598 | 29637 |
| 9 | NM_000422.2(KRT17):c.292T > G (p.Tyr98Asp) | KRT17 | PC 2 | Pathogenic (Feb 1, 1997) | 17 | 39780470 | 17 | 41624218 | 14588 | 29627 |
| 10 | NM_000422.2(KRT17):c.284T > C (p.Leu95Pro) | KRT17 | PC 2 | Pathogenic (May 14, 2015) | 17 | 39780478 | 17 | 41624226 | 14596 | 29635 |
| 11 | NM_000422.2(KRT17):c.284T > A (p.Leu95Gln) | KRT17 | PC 2 | Pathogenic (May 1, 2001) | 17 | 39780478 | 17 | 41624226 | 14595 | 29634 |
| 12 | NM_000422.2(KRT17):c.281G > C (p.Arg94Pro) | KRT17 | PC 2 | Pathogenic (May 1, 2001) | 17 | 39780481 | 17 | 41624229 | 14594 | 29633 |
| 13 | NM_000422.2(KRT17):c.281G > A (p.Arg94His) | KRT17 | PC 2| SM | Pathogenic (Dec 1, 2001) | 17 | 39780481 | 17 | 41624229 | 14590 | 29629 |
| 14 | NM_000422.2(KRT17):c.280C > T (p.Arg94Cys) | KRT17 | PC 2| | Pathogenic(Aug 15, 2016) | 17 | 39780482 | 17 | 41624230 | 14591 | 29630 |
| 15 | NM_000422.2(KRT17):c.275A > G (p.Asn92Ser) | KRT17 | PC 2 | Pathogenic (Jul 26, 2016) | 17 | 39780487 | 17 | 41624235 | 14587 | 29626 |
| 16 | NM_000422.2(KRT17):c.274A > C (p.Asn92His) | KRT17 | SM | Pathogenic (Feb 1, 1997) | 17 | 39780488 | 17 | 41624236 | 14589 | 29628 |
| 17 | NM_000422.2(KRT17):c.274A > G (p.Asn92Asp) | KRT17 | PC 2 | Pathogenic (Nov 3, 2016) | 17 | 39780488 | 17 | 41624236 | 14586 | 29625 |
| 18 | NM_000422.2(KRT17):c.263T > A (p.Met88Lys) | KRT17 | Not provided | Not provided | 17 | 39780499 | 17 | 41624247 | 66182 | 77079 |
| 19 | NM_000422.2(KRT17):c.263T > C (p.Met88Thr) | KRT17 | PC 2 | Pathogenic (Nov 1, 1999) | 17 | 39780499 | 17 | 41624247 | 14592 | 29631 |
| 20 | NM_000422.2(KRT17):c.-6G > C | KRT17 | Not specified | Benign (Apr 28, 2016) | 17 | 39780767 | 17 | 41624515 | 380281 | 375886 |
PC pachyonychia congenita, SM steatocystoma multiplex