Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21086 | 63481;63482;63483 | chr2:178588151;178588150;178588149 | chr2:179452878;179452877;179452876 |
| N2AB | 19445 | 58558;58559;58560 | chr2:178588151;178588150;178588149 | chr2:179452878;179452877;179452876 |
| N2A | 18518 | 55777;55778;55779 | chr2:178588151;178588150;178588149 | chr2:179452878;179452877;179452876 |
| N2B | 12021 | 36286;36287;36288 | chr2:178588151;178588150;178588149 | chr2:179452878;179452877;179452876 |
| Novex-1 | 12146 | 36661;36662;36663 | chr2:178588151;178588150;178588149 | chr2:179452878;179452877;179452876 |
| Novex-2 | 12213 | 36862;36863;36864 | chr2:178588151;178588150;178588149 | chr2:179452878;179452877;179452876 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs755518802  |
-0.47 | 0.994 | N | 0.676 | 0.34 | 0.399596177874 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| G/R | rs755518802 |
-0.47 | 0.994 | N | 0.676 | 0.34 | 0.399596177874 | gnomAD-4.0.0 | 3.20002E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87854E-06 | 1.43843E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1391 | likely_benign | 0.1573 | benign | -0.646 | Destabilizing | 0.248 | N | 0.277 | neutral | N | 0.369966074 | None | None | I |
| G/C | 0.2163 | likely_benign | 0.2306 | benign | -0.861 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/D | 0.2576 | likely_benign | 0.3173 | benign | -1.844 | Destabilizing | 0.991 | D | 0.613 | neutral | None | None | None | None | I |
| G/E | 0.2256 | likely_benign | 0.2848 | benign | -1.751 | Destabilizing | 0.989 | D | 0.621 | neutral | N | 0.387644971 | None | None | I |
| G/F | 0.6257 | likely_pathogenic | 0.6509 | pathogenic | -0.8 | Destabilizing | 0.999 | D | 0.74 | deleterious | None | None | None | None | I |
| G/H | 0.4811 | ambiguous | 0.5233 | ambiguous | -1.81 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/I | 0.299 | likely_benign | 0.3485 | ambiguous | 0.232 | Stabilizing | 0.991 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/K | 0.5738 | likely_pathogenic | 0.6403 | pathogenic | -1.256 | Destabilizing | 0.991 | D | 0.636 | neutral | None | None | None | None | I |
| G/L | 0.3901 | ambiguous | 0.4277 | ambiguous | 0.232 | Stabilizing | 0.97 | D | 0.655 | neutral | None | None | None | None | I |
| G/M | 0.4132 | ambiguous | 0.4407 | ambiguous | 0.151 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| G/N | 0.2273 | likely_benign | 0.2487 | benign | -1.229 | Destabilizing | 0.991 | D | 0.605 | neutral | None | None | None | None | I |
| G/P | 0.9597 | likely_pathogenic | 0.9584 | pathogenic | -0.015 | Destabilizing | 0.996 | D | 0.666 | neutral | None | None | None | None | I |
| G/Q | 0.3531 | ambiguous | 0.4032 | ambiguous | -1.177 | Destabilizing | 0.996 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/R | 0.458 | ambiguous | 0.53 | ambiguous | -1.243 | Destabilizing | 0.994 | D | 0.676 | prob.neutral | N | 0.411273979 | None | None | I |
| G/S | 0.0894 | likely_benign | 0.0998 | benign | -1.502 | Destabilizing | 0.559 | D | 0.26 | neutral | None | None | None | None | I |
| G/T | 0.1455 | likely_benign | 0.1593 | benign | -1.303 | Destabilizing | 0.304 | N | 0.432 | neutral | None | None | None | None | I |
| G/V | 0.2141 | likely_benign | 0.2536 | benign | -0.015 | Destabilizing | 0.961 | D | 0.657 | neutral | N | 0.429745096 | None | None | I |
| G/W | 0.5129 | ambiguous | 0.5441 | ambiguous | -1.531 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| G/Y | 0.5098 | ambiguous | 0.5429 | ambiguous | -0.926 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | 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.