Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21871 | 65836;65837;65838 | chr2:178583192;178583191;178583190 | chr2:179447919;179447918;179447917 |
| N2AB | 20230 | 60913;60914;60915 | chr2:178583192;178583191;178583190 | chr2:179447919;179447918;179447917 |
| N2A | 19303 | 58132;58133;58134 | chr2:178583192;178583191;178583190 | chr2:179447919;179447918;179447917 |
| N2B | 12806 | 38641;38642;38643 | chr2:178583192;178583191;178583190 | chr2:179447919;179447918;179447917 |
| Novex-1 | 12931 | 39016;39017;39018 | chr2:178583192;178583191;178583190 | chr2:179447919;179447918;179447917 |
| Novex-2 | 12998 | 39217;39218;39219 | chr2:178583192;178583191;178583190 | chr2:179447919;179447918;179447917 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs927643786  |
None | 0.939 | N | 0.426 | 0.337 | 0.691737141449 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs927643786 |
None | 0.939 | N | 0.426 | 0.337 | 0.691737141449 | gnomAD-4.0.0 | 1.24266E-06 | None | None | None | None | N | None | 2.67465E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs776842227 |
-0.099 | 0.028 | N | 0.119 | 0.082 | None | gnomAD-2.1.1 | 8.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.81E-05 | 0 |
| S/T | rs776842227 |
-0.099 | 0.028 | N | 0.119 | 0.082 | None | gnomAD-4.0.0 | 1.02922E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.17204E-05 | 0 | 3.32248E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1171 | likely_benign | 0.1131 | benign | -0.222 | Destabilizing | 0.003 | N | 0.107 | neutral | N | 0.482433149 | None | None | N |
| S/C | 0.1886 | likely_benign | 0.1585 | benign | -0.331 | Destabilizing | 0.983 | D | 0.351 | neutral | N | 0.485764781 | None | None | N |
| S/D | 0.3044 | likely_benign | 0.2505 | benign | 0.416 | Stabilizing | 0.59 | D | 0.345 | neutral | None | None | None | None | N |
| S/E | 0.4276 | ambiguous | 0.407 | ambiguous | 0.33 | Stabilizing | 0.742 | D | 0.341 | neutral | None | None | None | None | N |
| S/F | 0.4299 | ambiguous | 0.3496 | ambiguous | -0.826 | Destabilizing | 0.939 | D | 0.426 | neutral | N | 0.485511291 | None | None | N |
| S/G | 0.077 | likely_benign | 0.0856 | benign | -0.328 | Destabilizing | 0.373 | N | 0.36 | neutral | None | None | None | None | N |
| S/H | 0.3574 | ambiguous | 0.3315 | benign | -0.737 | Destabilizing | 0.953 | D | 0.365 | neutral | None | None | None | None | N |
| S/I | 0.3327 | likely_benign | 0.2941 | benign | -0.078 | Destabilizing | 0.91 | D | 0.415 | neutral | None | None | None | None | N |
| S/K | 0.5937 | likely_pathogenic | 0.595 | pathogenic | -0.343 | Destabilizing | 0.742 | D | 0.33 | neutral | None | None | None | None | N |
| S/L | 0.2148 | likely_benign | 0.1826 | benign | -0.078 | Destabilizing | 0.59 | D | 0.362 | neutral | None | None | None | None | N |
| S/M | 0.2796 | likely_benign | 0.2558 | benign | -0.061 | Destabilizing | 0.984 | D | 0.359 | neutral | None | None | None | None | N |
| S/N | 0.1042 | likely_benign | 0.0892 | benign | -0.142 | Destabilizing | 0.016 | N | 0.119 | neutral | None | None | None | None | N |
| S/P | 0.527 | ambiguous | 0.4077 | ambiguous | -0.097 | Destabilizing | 0.939 | D | 0.385 | neutral | N | 0.478008764 | None | None | N |
| S/Q | 0.4411 | ambiguous | 0.4439 | ambiguous | -0.32 | Destabilizing | 0.953 | D | 0.4 | neutral | None | None | None | None | N |
| S/R | 0.5998 | likely_pathogenic | 0.5914 | pathogenic | -0.18 | Destabilizing | 0.953 | D | 0.385 | neutral | None | None | None | None | N |
| S/T | 0.099 | likely_benign | 0.0934 | benign | -0.245 | Destabilizing | 0.028 | N | 0.119 | neutral | N | 0.474467027 | None | None | N |
| S/V | 0.3024 | likely_benign | 0.2724 | benign | -0.097 | Destabilizing | 0.59 | D | 0.331 | neutral | None | None | None | None | N |
| S/W | 0.563 | ambiguous | 0.5004 | ambiguous | -0.878 | Destabilizing | 0.996 | D | 0.535 | neutral | None | None | None | None | N |
| S/Y | 0.284 | likely_benign | 0.2309 | benign | -0.564 | Destabilizing | 0.979 | D | 0.42 | neutral | N | 0.507984954 | 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.