Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15803 | 47632;47633;47634 | chr2:178617944;178617943;178617942 | chr2:179482671;179482670;179482669 |
| N2AB | 14162 | 42709;42710;42711 | chr2:178617944;178617943;178617942 | chr2:179482671;179482670;179482669 |
| N2A | 13235 | 39928;39929;39930 | chr2:178617944;178617943;178617942 | chr2:179482671;179482670;179482669 |
| N2B | 6738 | 20437;20438;20439 | chr2:178617944;178617943;178617942 | chr2:179482671;179482670;179482669 |
| Novex-1 | 6863 | 20812;20813;20814 | chr2:178617944;178617943;178617942 | chr2:179482671;179482670;179482669 |
| Novex-2 | 6930 | 21013;21014;21015 | chr2:178617944;178617943;178617942 | chr2:179482671;179482670;179482669 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/V | rs794729441  |
None | 0.061 | N | 0.165 | 0.11 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 3.9032E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs794729441 |
None | 0.061 | N | 0.165 | 0.11 | None | gnomAD-4.0.0 | 5.13084E-06 | None | None | None | None | I | None | 0 | 1.69687E-05 | None | 0 | 4.86547E-05 | None | 0 | 0 | 0 | 1.34048E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4566 | ambiguous | 0.4515 | ambiguous | -0.481 | Destabilizing | 0.863 | D | 0.386 | neutral | None | None | None | None | I |
| I/C | 0.7945 | likely_pathogenic | 0.7728 | pathogenic | -0.794 | Destabilizing | 0.999 | D | 0.406 | neutral | None | None | None | None | I |
| I/D | 0.8323 | likely_pathogenic | 0.8502 | pathogenic | -0.147 | Destabilizing | 0.991 | D | 0.405 | neutral | None | None | None | None | I |
| I/E | 0.7571 | likely_pathogenic | 0.7573 | pathogenic | -0.233 | Destabilizing | 0.991 | D | 0.383 | neutral | None | None | None | None | I |
| I/F | 0.2345 | likely_benign | 0.2378 | benign | -0.604 | Destabilizing | 0.988 | D | 0.353 | neutral | N | 0.463650193 | None | None | I |
| I/G | 0.6716 | likely_pathogenic | 0.6735 | pathogenic | -0.586 | Destabilizing | 0.969 | D | 0.39 | neutral | None | None | None | None | I |
| I/H | 0.7067 | likely_pathogenic | 0.6863 | pathogenic | 0.107 | Stabilizing | 0.999 | D | 0.407 | neutral | None | None | None | None | I |
| I/K | 0.6246 | likely_pathogenic | 0.574 | pathogenic | -0.318 | Destabilizing | 0.991 | D | 0.389 | neutral | None | None | None | None | I |
| I/L | 0.1262 | likely_benign | 0.1298 | benign | -0.323 | Destabilizing | 0.509 | D | 0.376 | neutral | N | 0.453592199 | None | None | I |
| I/M | 0.1476 | likely_benign | 0.1509 | benign | -0.616 | Destabilizing | 0.988 | D | 0.356 | neutral | N | 0.453982294 | None | None | I |
| I/N | 0.4556 | ambiguous | 0.4545 | ambiguous | -0.203 | Destabilizing | 0.988 | D | 0.407 | neutral | N | 0.405828417 | None | None | I |
| I/P | 0.5855 | likely_pathogenic | 0.6211 | pathogenic | -0.348 | Destabilizing | 0.997 | D | 0.407 | neutral | None | None | None | None | I |
| I/Q | 0.6108 | likely_pathogenic | 0.5841 | pathogenic | -0.365 | Destabilizing | 0.997 | D | 0.395 | neutral | None | None | None | None | I |
| I/R | 0.5072 | ambiguous | 0.458 | ambiguous | 0.139 | Stabilizing | 0.991 | D | 0.403 | neutral | None | None | None | None | I |
| I/S | 0.4254 | ambiguous | 0.4305 | ambiguous | -0.607 | Destabilizing | 0.852 | D | 0.361 | neutral | N | 0.419126664 | None | None | I |
| I/T | 0.4193 | ambiguous | 0.4249 | ambiguous | -0.59 | Destabilizing | 0.134 | N | 0.277 | neutral | N | 0.438825164 | None | None | I |
| I/V | 0.0919 | likely_benign | 0.0905 | benign | -0.348 | Destabilizing | 0.061 | N | 0.165 | neutral | N | 0.385849073 | None | None | I |
| I/W | 0.7778 | likely_pathogenic | 0.7753 | pathogenic | -0.618 | Destabilizing | 0.999 | D | 0.447 | neutral | None | None | None | None | I |
| I/Y | 0.6193 | likely_pathogenic | 0.5856 | pathogenic | -0.389 | Destabilizing | 0.997 | D | 0.395 | neutral | None | None | None | None | I |
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.