Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24582 | 73969;73970;73971 | chr2:178572388;178572387;178572386 | chr2:179437115;179437114;179437113 |
| N2AB | 22941 | 69046;69047;69048 | chr2:178572388;178572387;178572386 | chr2:179437115;179437114;179437113 |
| N2A | 22014 | 66265;66266;66267 | chr2:178572388;178572387;178572386 | chr2:179437115;179437114;179437113 |
| N2B | 15517 | 46774;46775;46776 | chr2:178572388;178572387;178572386 | chr2:179437115;179437114;179437113 |
| Novex-1 | 15642 | 47149;47150;47151 | chr2:178572388;178572387;178572386 | chr2:179437115;179437114;179437113 |
| Novex-2 | 15709 | 47350;47351;47352 | chr2:178572388;178572387;178572386 | chr2:179437115;179437114;179437113 |
| 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 | 0.448 | N | 0.357 | 0.066 | 0.264081493735 | gnomAD-4.0.0 | 6.84538E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65755E-05 |
| Q/P | rs375186364  |
-0.306 | None | N | 0.151 | 0.24 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| Q/P | rs375186364 |
-0.306 | None | N | 0.151 | 0.24 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| Q/P | rs375186364 |
-0.306 | None | N | 0.151 | 0.24 | None | gnomAD-4.0.0 | 1.30192E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.78074E-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 | 0.115 | likely_benign | 0.1028 | benign | -0.095 | Destabilizing | 0.033 | N | 0.208 | neutral | None | None | None | None | N |
| Q/C | 0.3936 | ambiguous | 0.3524 | ambiguous | 0.037 | Stabilizing | 0.712 | D | 0.389 | neutral | None | None | None | None | N |
| Q/D | 0.1606 | likely_benign | 0.1639 | benign | -0.046 | Destabilizing | None | N | 0.103 | neutral | None | None | None | None | N |
| Q/E | 0.0854 | likely_benign | 0.0843 | benign | -0.099 | Destabilizing | None | N | 0.094 | neutral | N | 0.417215729 | None | None | N |
| Q/F | 0.4599 | ambiguous | 0.4032 | ambiguous | -0.463 | Destabilizing | 0.426 | N | 0.454 | neutral | None | None | None | None | N |
| Q/G | 0.1245 | likely_benign | 0.121 | benign | -0.217 | Destabilizing | 0.033 | N | 0.263 | neutral | None | None | None | None | N |
| Q/H | 0.1123 | likely_benign | 0.1104 | benign | -0.039 | Destabilizing | 0.448 | N | 0.357 | neutral | N | 0.462084014 | None | None | N |
| Q/I | 0.2713 | likely_benign | 0.2178 | benign | 0.127 | Stabilizing | 0.07 | N | 0.388 | neutral | None | None | None | None | N |
| Q/K | 0.1232 | likely_benign | 0.109 | benign | 0.09 | Stabilizing | 0.02 | N | 0.248 | neutral | N | 0.381660361 | None | None | N |
| Q/L | 0.1009 | likely_benign | 0.0798 | benign | 0.127 | Stabilizing | None | N | 0.163 | neutral | N | 0.496447304 | None | None | N |
| Q/M | 0.2154 | likely_benign | 0.183 | benign | 0.203 | Stabilizing | 0.346 | N | 0.355 | neutral | None | None | None | None | N |
| Q/N | 0.0943 | likely_benign | 0.0996 | benign | -0.183 | Destabilizing | 0.001 | N | 0.147 | neutral | None | None | None | None | N |
| Q/P | 0.1284 | likely_benign | 0.1005 | benign | 0.078 | Stabilizing | None | N | 0.151 | neutral | N | 0.406230732 | None | None | N |
| Q/R | 0.1379 | likely_benign | 0.123 | benign | 0.277 | Stabilizing | 0.03 | N | 0.275 | neutral | N | 0.419178599 | None | None | N |
| Q/S | 0.0938 | likely_benign | 0.0926 | benign | -0.168 | Destabilizing | 0.002 | N | 0.131 | neutral | None | None | None | None | N |
| Q/T | 0.1092 | likely_benign | 0.0978 | benign | -0.089 | Destabilizing | 0.001 | N | 0.268 | neutral | None | None | None | None | N |
| Q/V | 0.1762 | likely_benign | 0.1416 | benign | 0.078 | Stabilizing | 0.009 | N | 0.24 | neutral | None | None | None | None | N |
| Q/W | 0.5409 | ambiguous | 0.4604 | ambiguous | -0.513 | Destabilizing | 0.979 | D | 0.357 | neutral | None | None | None | None | N |
| Q/Y | 0.2753 | likely_benign | 0.2438 | benign | -0.224 | Destabilizing | 0.3 | N | 0.424 | 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.