Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14663 | 44212;44213;44214 | chr2:178631061;178631060;178631059 | chr2:179495788;179495787;179495786 |
| N2AB | 13022 | 39289;39290;39291 | chr2:178631061;178631060;178631059 | chr2:179495788;179495787;179495786 |
| N2A | 12095 | 36508;36509;36510 | chr2:178631061;178631060;178631059 | chr2:179495788;179495787;179495786 |
| N2B | 5598 | 17017;17018;17019 | chr2:178631061;178631060;178631059 | chr2:179495788;179495787;179495786 |
| Novex-1 | 5723 | 17392;17393;17394 | chr2:178631061;178631060;178631059 | chr2:179495788;179495787;179495786 |
| Novex-2 | 5790 | 17593;17594;17595 | chr2:178631061;178631060;178631059 | chr2:179495788;179495787;179495786 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs1271800091  |
None | 0.201 | N | 0.61 | 0.037 | 0.15556083564 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/E | rs1271800091 |
None | 0.201 | N | 0.61 | 0.037 | 0.15556083564 | gnomAD-4.0.0 | 6.57358E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47067E-05 | 0 | 0 |
| K/N | rs781378924 |
0.033 | 0.638 | N | 0.704 | 0.202 | 0.143124449307 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.68331E-04 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs781378924 |
0.033 | 0.638 | N | 0.704 | 0.202 | 0.143124449307 | gnomAD-4.0.0 | 1.59255E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78272E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs1271800091 |
None | 0.002 | N | 0.3 | 0.057 | 0.126345400529 | gnomAD-4.0.0 | 1.30044E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61931E-05 | 0 | 1.65744E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.2224 | likely_benign | 0.254 | benign | -0.263 | Destabilizing | 0.25 | N | 0.661 | neutral | None | None | None | None | N |
| K/C | 0.665 | likely_pathogenic | 0.7073 | pathogenic | -0.3 | Destabilizing | 0.982 | D | 0.678 | prob.neutral | None | None | None | None | N |
| K/D | 0.5204 | ambiguous | 0.5648 | pathogenic | 0.136 | Stabilizing | 0.7 | D | 0.74 | deleterious | None | None | None | None | N |
| K/E | 0.0965 | likely_benign | 0.0993 | benign | 0.16 | Stabilizing | 0.201 | N | 0.61 | neutral | N | 0.44273533 | None | None | N |
| K/F | 0.6505 | likely_pathogenic | 0.6972 | pathogenic | -0.426 | Destabilizing | 0.982 | D | 0.682 | prob.neutral | None | None | None | None | N |
| K/G | 0.4087 | ambiguous | 0.4282 | ambiguous | -0.505 | Destabilizing | 0.7 | D | 0.673 | neutral | None | None | None | None | N |
| K/H | 0.2848 | likely_benign | 0.3177 | benign | -0.918 | Destabilizing | 0.898 | D | 0.71 | prob.delet. | None | None | None | None | N |
| K/I | 0.1991 | likely_benign | 0.2129 | benign | 0.307 | Stabilizing | 0.826 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/L | 0.2365 | likely_benign | 0.2677 | benign | 0.307 | Stabilizing | 0.7 | D | 0.673 | neutral | None | None | None | None | N |
| K/M | 0.1327 | likely_benign | 0.1464 | benign | 0.302 | Stabilizing | 0.931 | D | 0.709 | prob.delet. | D | 0.546053717 | None | None | N |
| K/N | 0.2483 | likely_benign | 0.2775 | benign | 0.108 | Stabilizing | 0.638 | D | 0.704 | prob.neutral | N | 0.511946841 | None | None | N |
| K/P | 0.7853 | likely_pathogenic | 0.8411 | pathogenic | 0.147 | Stabilizing | 0.826 | D | 0.758 | deleterious | None | None | None | None | N |
| K/Q | 0.0835 | likely_benign | 0.0877 | benign | -0.116 | Destabilizing | 0.002 | N | 0.3 | neutral | N | 0.443790792 | None | None | N |
| K/R | 0.104 | likely_benign | 0.1044 | benign | -0.156 | Destabilizing | 0.201 | N | 0.591 | neutral | N | 0.447235345 | None | None | N |
| K/S | 0.2409 | likely_benign | 0.2642 | benign | -0.504 | Destabilizing | 0.25 | N | 0.639 | neutral | None | None | None | None | N |
| K/T | 0.0783 | likely_benign | 0.0902 | benign | -0.313 | Destabilizing | 0.638 | D | 0.734 | prob.delet. | N | 0.445050554 | None | None | N |
| K/V | 0.1973 | likely_benign | 0.2133 | benign | 0.147 | Stabilizing | 0.7 | D | 0.701 | prob.neutral | None | None | None | None | N |
| K/W | 0.7555 | likely_pathogenic | 0.7914 | pathogenic | -0.339 | Destabilizing | 0.982 | D | 0.673 | neutral | None | None | None | None | N |
| K/Y | 0.5453 | ambiguous | 0.5953 | pathogenic | 0.008 | Stabilizing | 0.826 | D | 0.703 | prob.neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.