Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16309 | 49150;49151;49152 | chr2:178614589;178614588;178614587 | chr2:179479316;179479315;179479314 |
| N2AB | 14668 | 44227;44228;44229 | chr2:178614589;178614588;178614587 | chr2:179479316;179479315;179479314 |
| N2A | 13741 | 41446;41447;41448 | chr2:178614589;178614588;178614587 | chr2:179479316;179479315;179479314 |
| N2B | 7244 | 21955;21956;21957 | chr2:178614589;178614588;178614587 | chr2:179479316;179479315;179479314 |
| Novex-1 | 7369 | 22330;22331;22332 | chr2:178614589;178614588;178614587 | chr2:179479316;179479315;179479314 |
| Novex-2 | 7436 | 22531;22532;22533 | chr2:178614589;178614588;178614587 | chr2:179479316;179479315;179479314 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | None | None | 0.794 | N | 0.555 | 0.166 | 0.295974979623 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| N/T | rs752071275  |
-0.079 | 0.001 | N | 0.261 | 0.1 | 0.246215685461 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| N/T | rs752071275 |
-0.079 | 0.001 | N | 0.261 | 0.1 | 0.246215685461 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| N/T | rs752071275 |
-0.079 | 0.001 | N | 0.261 | 0.1 | 0.246215685461 | gnomAD-4.0.0 | 3.72129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.59094E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.3148 | likely_benign | 0.2703 | benign | -0.426 | Destabilizing | 0.004 | N | 0.445 | neutral | None | None | None | None | N |
| N/C | 0.4347 | ambiguous | 0.3776 | ambiguous | 0.358 | Stabilizing | 0.94 | D | 0.64 | neutral | None | None | None | None | N |
| N/D | 0.1611 | likely_benign | 0.1619 | benign | 0.118 | Stabilizing | 0.183 | N | 0.443 | neutral | N | 0.500282988 | None | None | N |
| N/E | 0.4915 | ambiguous | 0.4446 | ambiguous | 0.095 | Stabilizing | 0.228 | N | 0.407 | neutral | None | None | None | None | N |
| N/F | 0.7477 | likely_pathogenic | 0.7035 | pathogenic | -0.71 | Destabilizing | 0.836 | D | 0.657 | neutral | None | None | None | None | N |
| N/G | 0.4629 | ambiguous | 0.4236 | ambiguous | -0.624 | Destabilizing | None | N | 0.264 | neutral | None | None | None | None | N |
| N/H | 0.187 | likely_benign | 0.1671 | benign | -0.661 | Destabilizing | 0.794 | D | 0.555 | neutral | N | 0.513293012 | None | None | N |
| N/I | 0.3673 | ambiguous | 0.3278 | benign | 0.011 | Stabilizing | 0.351 | N | 0.653 | neutral | N | 0.512313459 | None | None | N |
| N/K | 0.4642 | ambiguous | 0.3938 | ambiguous | 0.085 | Stabilizing | 0.101 | N | 0.407 | neutral | N | 0.494041007 | None | None | N |
| N/L | 0.4087 | ambiguous | 0.3526 | ambiguous | 0.011 | Stabilizing | 0.129 | N | 0.577 | neutral | None | None | None | None | N |
| N/M | 0.4008 | ambiguous | 0.3546 | ambiguous | 0.436 | Stabilizing | 0.94 | D | 0.643 | neutral | None | None | None | None | N |
| N/P | 0.7374 | likely_pathogenic | 0.6492 | pathogenic | -0.107 | Destabilizing | 0.593 | D | 0.601 | neutral | None | None | None | None | N |
| N/Q | 0.4701 | ambiguous | 0.4141 | ambiguous | -0.392 | Destabilizing | 0.418 | N | 0.513 | neutral | None | None | None | None | N |
| N/R | 0.5519 | ambiguous | 0.473 | ambiguous | 0.115 | Stabilizing | 0.418 | N | 0.447 | neutral | None | None | None | None | N |
| N/S | 0.1273 | likely_benign | 0.1186 | benign | -0.184 | Destabilizing | 0.001 | N | 0.263 | neutral | N | 0.454200911 | None | None | N |
| N/T | 0.1285 | likely_benign | 0.1074 | benign | -0.055 | Destabilizing | 0.001 | N | 0.261 | neutral | N | 0.440638113 | None | None | N |
| N/V | 0.3311 | likely_benign | 0.2888 | benign | -0.107 | Destabilizing | 0.129 | N | 0.572 | neutral | None | None | None | None | N |
| N/W | 0.8776 | likely_pathogenic | 0.8607 | pathogenic | -0.637 | Destabilizing | 0.983 | D | 0.637 | neutral | None | None | None | None | N |
| N/Y | 0.2649 | likely_benign | 0.2532 | benign | -0.391 | Destabilizing | 0.921 | D | 0.653 | neutral | N | 0.511912347 | 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.