Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28804 | 86635;86636;86637 | chr2:178559722;178559721;178559720 | chr2:179424449;179424448;179424447 |
| N2AB | 27163 | 81712;81713;81714 | chr2:178559722;178559721;178559720 | chr2:179424449;179424448;179424447 |
| N2A | 26236 | 78931;78932;78933 | chr2:178559722;178559721;178559720 | chr2:179424449;179424448;179424447 |
| N2B | 19739 | 59440;59441;59442 | chr2:178559722;178559721;178559720 | chr2:179424449;179424448;179424447 |
| Novex-1 | 19864 | 59815;59816;59817 | chr2:178559722;178559721;178559720 | chr2:179424449;179424448;179424447 |
| Novex-2 | 19931 | 60016;60017;60018 | chr2:178559722;178559721;178559720 | chr2:179424449;179424448;179424447 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs879038909  |
None | 0.63 | N | 0.423 | 0.24 | None | gnomAD-4.0.0 | 2.02969E-06 | None | None | None | None | N | None | 3.48833E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs879038909 |
None | 0.983 | N | 0.427 | 0.443 | 0.471211772063 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| T/P | rs879038909 |
None | 0.983 | N | 0.427 | 0.443 | 0.471211772063 | gnomAD-4.0.0 | 6.57263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| T/R | rs750815763 |
-0.247 | 0.935 | N | 0.397 | 0.468 | 0.507628581994 | gnomAD-2.1.1 | 4.2E-06 | None | None | None | None | N | None | 0 | 2.97E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/R | rs750815763 |
-0.247 | 0.935 | N | 0.397 | 0.468 | 0.507628581994 | gnomAD-4.0.0 | 1.62247E-06 | None | None | None | None | N | None | 0 | 2.3232E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0906 | likely_benign | 0.1109 | benign | -0.679 | Destabilizing | 0.63 | D | 0.423 | neutral | N | 0.494620006 | None | None | N |
| T/C | 0.4171 | ambiguous | 0.5016 | ambiguous | -0.331 | Destabilizing | 0.999 | D | 0.471 | neutral | None | None | None | None | N |
| T/D | 0.3215 | likely_benign | 0.3944 | ambiguous | 0.236 | Stabilizing | 0.975 | D | 0.391 | neutral | None | None | None | None | N |
| T/E | 0.3617 | ambiguous | 0.4586 | ambiguous | 0.182 | Stabilizing | 0.845 | D | 0.389 | neutral | None | None | None | None | N |
| T/F | 0.3151 | likely_benign | 0.4242 | ambiguous | -1.055 | Destabilizing | 0.996 | D | 0.514 | neutral | None | None | None | None | N |
| T/G | 0.1675 | likely_benign | 0.1936 | benign | -0.85 | Destabilizing | 0.845 | D | 0.438 | neutral | None | None | None | None | N |
| T/H | 0.3185 | likely_benign | 0.4007 | ambiguous | -1.154 | Destabilizing | 0.997 | D | 0.518 | neutral | None | None | None | None | N |
| T/I | 0.2694 | likely_benign | 0.4111 | ambiguous | -0.335 | Destabilizing | 0.983 | D | 0.431 | neutral | N | 0.487493663 | None | None | N |
| T/K | 0.2986 | likely_benign | 0.3821 | ambiguous | -0.451 | Destabilizing | 0.056 | N | 0.327 | neutral | D | 0.531248603 | None | None | N |
| T/L | 0.1307 | likely_benign | 0.1709 | benign | -0.335 | Destabilizing | 0.916 | D | 0.391 | neutral | None | None | None | None | N |
| T/M | 0.1128 | likely_benign | 0.137 | benign | -0.014 | Destabilizing | 0.999 | D | 0.461 | neutral | None | None | None | None | N |
| T/N | 0.1247 | likely_benign | 0.1472 | benign | -0.248 | Destabilizing | 0.975 | D | 0.4 | neutral | None | None | None | None | N |
| T/P | 0.4597 | ambiguous | 0.5442 | ambiguous | -0.42 | Destabilizing | 0.983 | D | 0.427 | neutral | N | 0.507408344 | None | None | N |
| T/Q | 0.3062 | likely_benign | 0.3785 | ambiguous | -0.481 | Destabilizing | 0.975 | D | 0.434 | neutral | None | None | None | None | N |
| T/R | 0.2466 | likely_benign | 0.3119 | benign | -0.192 | Destabilizing | 0.935 | D | 0.397 | neutral | N | 0.494366517 | None | None | N |
| T/S | 0.0814 | likely_benign | 0.0883 | benign | -0.546 | Destabilizing | 0.099 | N | 0.331 | neutral | N | 0.475376678 | None | None | N |
| T/V | 0.1851 | likely_benign | 0.2652 | benign | -0.42 | Destabilizing | 0.916 | D | 0.369 | neutral | None | None | None | None | N |
| T/W | 0.6411 | likely_pathogenic | 0.7198 | pathogenic | -0.98 | Destabilizing | 0.999 | D | 0.54 | neutral | None | None | None | None | N |
| T/Y | 0.3805 | ambiguous | 0.4721 | ambiguous | -0.731 | Destabilizing | 0.996 | D | 0.52 | 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.