Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20613 | 62062;62063;62064 | chr2:178589888;178589887;178589886 | chr2:179454615;179454614;179454613 |
| N2AB | 18972 | 57139;57140;57141 | chr2:178589888;178589887;178589886 | chr2:179454615;179454614;179454613 |
| N2A | 18045 | 54358;54359;54360 | chr2:178589888;178589887;178589886 | chr2:179454615;179454614;179454613 |
| N2B | 11548 | 34867;34868;34869 | chr2:178589888;178589887;178589886 | chr2:179454615;179454614;179454613 |
| Novex-1 | 11673 | 35242;35243;35244 | chr2:178589888;178589887;178589886 | chr2:179454615;179454614;179454613 |
| Novex-2 | 11740 | 35443;35444;35445 | chr2:178589888;178589887;178589886 | chr2:179454615;179454614;179454613 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.794 | N | 0.228 | 0.147 | 0.296329037015 | gnomAD-4.0.0 | 1.59215E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76826E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs768175805  |
-0.23 | 0.002 | N | 0.115 | 0.115 | 0.144782658237 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| Q/R | rs768175805 |
-0.23 | 0.002 | N | 0.115 | 0.115 | 0.144782658237 | 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 |
| Q/R | rs768175805 |
-0.23 | 0.002 | N | 0.115 | 0.115 | 0.144782658237 | gnomAD-4.0.0 | 8.97201E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.67588E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2949 | likely_benign | 0.3219 | benign | -0.665 | Destabilizing | 0.114 | N | 0.27 | neutral | None | None | None | None | N |
| Q/C | 0.7679 | likely_pathogenic | 0.7825 | pathogenic | 0.021 | Stabilizing | 0.983 | D | 0.313 | neutral | None | None | None | None | N |
| Q/D | 0.6297 | likely_pathogenic | 0.6479 | pathogenic | -0.343 | Destabilizing | 0.593 | D | 0.155 | neutral | None | None | None | None | N |
| Q/E | 0.1145 | likely_benign | 0.1212 | benign | -0.26 | Destabilizing | 0.183 | N | 0.187 | neutral | N | 0.427376795 | None | None | N |
| Q/F | 0.8154 | likely_pathogenic | 0.8271 | pathogenic | -0.343 | Destabilizing | 0.836 | D | 0.381 | neutral | None | None | None | None | N |
| Q/G | 0.4451 | ambiguous | 0.4816 | ambiguous | -1.011 | Destabilizing | 0.418 | N | 0.239 | neutral | None | None | None | None | N |
| Q/H | 0.384 | ambiguous | 0.4147 | ambiguous | -0.812 | Destabilizing | 0.794 | D | 0.228 | neutral | N | 0.454064751 | None | None | N |
| Q/I | 0.4547 | ambiguous | 0.4668 | ambiguous | 0.214 | Stabilizing | 0.004 | N | 0.158 | neutral | None | None | None | None | N |
| Q/K | 0.2494 | likely_benign | 0.2354 | benign | -0.365 | Destabilizing | 0.003 | N | 0.09 | neutral | N | 0.426280717 | None | None | N |
| Q/L | 0.1992 | likely_benign | 0.212 | benign | 0.214 | Stabilizing | 0.047 | N | 0.241 | neutral | N | 0.440500808 | None | None | N |
| Q/M | 0.3467 | ambiguous | 0.3632 | ambiguous | 0.618 | Stabilizing | 0.836 | D | 0.214 | neutral | None | None | None | None | N |
| Q/N | 0.4328 | ambiguous | 0.4574 | ambiguous | -0.837 | Destabilizing | 0.418 | N | 0.147 | neutral | None | None | None | None | N |
| Q/P | 0.7823 | likely_pathogenic | 0.8055 | pathogenic | -0.048 | Destabilizing | 0.77 | D | 0.319 | neutral | N | 0.454758184 | None | None | N |
| Q/R | 0.286 | likely_benign | 0.2687 | benign | -0.284 | Destabilizing | 0.002 | N | 0.115 | neutral | N | 0.336989651 | None | None | N |
| Q/S | 0.3403 | ambiguous | 0.3586 | ambiguous | -0.945 | Destabilizing | 0.228 | N | 0.172 | neutral | None | None | None | None | N |
| Q/T | 0.2636 | likely_benign | 0.2794 | benign | -0.668 | Destabilizing | 0.228 | N | 0.277 | neutral | None | None | None | None | N |
| Q/V | 0.2768 | likely_benign | 0.2915 | benign | -0.048 | Destabilizing | 0.004 | N | 0.145 | neutral | None | None | None | None | N |
| Q/W | 0.8131 | likely_pathogenic | 0.8184 | pathogenic | -0.21 | Destabilizing | 0.983 | D | 0.318 | neutral | None | None | None | None | N |
| Q/Y | 0.6708 | likely_pathogenic | 0.6999 | pathogenic | -0.015 | Destabilizing | 0.94 | D | 0.357 | 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.