Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18059 | 54400;54401;54402 | chr2:178605002;178605001;178605000 | chr2:179469729;179469728;179469727 |
| N2AB | 16418 | 49477;49478;49479 | chr2:178605002;178605001;178605000 | chr2:179469729;179469728;179469727 |
| N2A | 15491 | 46696;46697;46698 | chr2:178605002;178605001;178605000 | chr2:179469729;179469728;179469727 |
| N2B | 8994 | 27205;27206;27207 | chr2:178605002;178605001;178605000 | chr2:179469729;179469728;179469727 |
| Novex-1 | 9119 | 27580;27581;27582 | chr2:178605002;178605001;178605000 | chr2:179469729;179469728;179469727 |
| Novex-2 | 9186 | 27781;27782;27783 | chr2:178605002;178605001;178605000 | chr2:179469729;179469728;179469727 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Q | rs772133203  |
-0.307 | 0.151 | N | 0.218 | 0.137 | 0.0551355673512 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| H/R | None | None | 0.642 | N | 0.407 | 0.192 | 0.239901079897 | gnomAD-4.0.0 | 1.38367E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.89725E-05 | 0 | 9.06965E-07 | 0 | 0 |
| H/Y | rs1329692225 |
0.85 | 0.473 | N | 0.413 | 0.203 | 0.317958651998 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.2308 | likely_benign | 0.2549 | benign | -0.683 | Destabilizing | 0.176 | N | 0.337 | neutral | None | None | None | None | N |
| H/C | 0.224 | likely_benign | 0.2413 | benign | 0.127 | Stabilizing | 0.995 | D | 0.536 | neutral | None | None | None | None | N |
| H/D | 0.2859 | likely_benign | 0.2735 | benign | -0.309 | Destabilizing | 0.27 | N | 0.447 | neutral | N | 0.447208641 | None | None | N |
| H/E | 0.3194 | likely_benign | 0.3207 | benign | -0.23 | Destabilizing | 0.329 | N | 0.361 | neutral | None | None | None | None | N |
| H/F | 0.2362 | likely_benign | 0.2381 | benign | 0.312 | Stabilizing | 0.007 | N | 0.223 | neutral | None | None | None | None | N |
| H/G | 0.3929 | ambiguous | 0.4136 | ambiguous | -1.034 | Destabilizing | 0.329 | N | 0.418 | neutral | None | None | None | None | N |
| H/I | 0.226 | likely_benign | 0.2491 | benign | 0.271 | Stabilizing | 0.704 | D | 0.575 | neutral | None | None | None | None | N |
| H/K | 0.2425 | likely_benign | 0.2579 | benign | -0.56 | Destabilizing | 0.329 | N | 0.445 | neutral | None | None | None | None | N |
| H/L | 0.1223 | likely_benign | 0.1268 | benign | 0.271 | Stabilizing | 0.27 | N | 0.45 | neutral | N | 0.434010058 | None | None | N |
| H/M | 0.3214 | likely_benign | 0.3496 | ambiguous | 0.177 | Stabilizing | 0.981 | D | 0.551 | neutral | None | None | None | None | N |
| H/N | 0.0979 | likely_benign | 0.1012 | benign | -0.488 | Destabilizing | 0.002 | N | 0.166 | neutral | N | 0.428468165 | None | None | N |
| H/P | 0.49 | ambiguous | 0.4184 | ambiguous | -0.025 | Destabilizing | 0.784 | D | 0.598 | neutral | N | 0.45598284 | None | None | N |
| H/Q | 0.1639 | likely_benign | 0.173 | benign | -0.282 | Destabilizing | 0.151 | N | 0.218 | neutral | N | 0.423350347 | None | None | N |
| H/R | 0.1204 | likely_benign | 0.127 | benign | -1.026 | Destabilizing | 0.642 | D | 0.407 | neutral | N | 0.383562595 | None | None | N |
| H/S | 0.1956 | likely_benign | 0.2115 | benign | -0.553 | Destabilizing | 0.037 | N | 0.185 | neutral | None | None | None | None | N |
| H/T | 0.1721 | likely_benign | 0.1893 | benign | -0.374 | Destabilizing | 0.004 | N | 0.233 | neutral | None | None | None | None | N |
| H/V | 0.1752 | likely_benign | 0.1936 | benign | -0.025 | Destabilizing | 0.495 | N | 0.481 | neutral | None | None | None | None | N |
| H/W | 0.4546 | ambiguous | 0.4368 | ambiguous | 0.537 | Stabilizing | 0.995 | D | 0.533 | neutral | None | None | None | None | N |
| H/Y | 0.1162 | likely_benign | 0.1119 | benign | 0.712 | Stabilizing | 0.473 | N | 0.413 | neutral | N | 0.449248869 | 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.