Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27911 | 83956;83957;83958 | chr2:178562401;178562400;178562399 | chr2:179427128;179427127;179427126 |
| N2AB | 26270 | 79033;79034;79035 | chr2:178562401;178562400;178562399 | chr2:179427128;179427127;179427126 |
| N2A | 25343 | 76252;76253;76254 | chr2:178562401;178562400;178562399 | chr2:179427128;179427127;179427126 |
| N2B | 18846 | 56761;56762;56763 | chr2:178562401;178562400;178562399 | chr2:179427128;179427127;179427126 |
| Novex-1 | 18971 | 57136;57137;57138 | chr2:178562401;178562400;178562399 | chr2:179427128;179427127;179427126 |
| Novex-2 | 19038 | 57337;57338;57339 | chr2:178562401;178562400;178562399 | chr2:179427128;179427127;179427126 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1704021353  |
None | 0.351 | N | 0.191 | 0.111 | 0.194818534648 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1704021353 |
None | 0.351 | N | 0.191 | 0.111 | 0.194818534648 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 2.41266E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0788 | likely_benign | 0.0865 | benign | -0.619 | Destabilizing | 0.004 | N | 0.107 | neutral | None | None | None | None | N |
| S/C | 0.1077 | likely_benign | 0.1324 | benign | -0.393 | Destabilizing | 0.978 | D | 0.335 | neutral | D | 0.524503484 | None | None | N |
| S/D | 0.4287 | ambiguous | 0.5109 | ambiguous | -0.01 | Destabilizing | 0.418 | N | 0.163 | neutral | None | None | None | None | N |
| S/E | 0.4626 | ambiguous | 0.5385 | ambiguous | -0.067 | Destabilizing | 0.264 | N | 0.141 | neutral | None | None | None | None | N |
| S/F | 0.1664 | likely_benign | 0.204 | benign | -0.983 | Destabilizing | 0.716 | D | 0.361 | neutral | None | None | None | None | N |
| S/G | 0.0916 | likely_benign | 0.1075 | benign | -0.801 | Destabilizing | 0.001 | N | 0.089 | neutral | N | 0.519308308 | None | None | N |
| S/H | 0.2884 | likely_benign | 0.3486 | ambiguous | -1.229 | Destabilizing | 0.836 | D | 0.338 | neutral | None | None | None | None | N |
| S/I | 0.1079 | likely_benign | 0.1305 | benign | -0.258 | Destabilizing | 0.213 | N | 0.359 | neutral | N | 0.453622034 | None | None | N |
| S/K | 0.5549 | ambiguous | 0.6597 | pathogenic | -0.695 | Destabilizing | 0.002 | N | 0.132 | neutral | None | None | None | None | N |
| S/L | 0.0821 | likely_benign | 0.0994 | benign | -0.258 | Destabilizing | 0.002 | N | 0.256 | neutral | None | None | None | None | N |
| S/M | 0.1217 | likely_benign | 0.1377 | benign | 0.01 | Stabilizing | 0.716 | D | 0.342 | neutral | None | None | None | None | N |
| S/N | 0.1016 | likely_benign | 0.1249 | benign | -0.485 | Destabilizing | 0.351 | N | 0.191 | neutral | N | 0.509243243 | None | None | N |
| S/P | 0.8445 | likely_pathogenic | 0.8783 | pathogenic | -0.346 | Destabilizing | 0.593 | D | 0.394 | neutral | None | None | None | None | N |
| S/Q | 0.3754 | ambiguous | 0.4406 | ambiguous | -0.697 | Destabilizing | 0.716 | D | 0.285 | neutral | None | None | None | None | N |
| S/R | 0.5055 | ambiguous | 0.6181 | pathogenic | -0.459 | Destabilizing | 0.213 | N | 0.35 | neutral | N | 0.474554666 | None | None | N |
| S/T | 0.0638 | likely_benign | 0.0694 | benign | -0.57 | Destabilizing | 0.003 | N | 0.103 | neutral | N | 0.394555087 | None | None | N |
| S/V | 0.112 | likely_benign | 0.1307 | benign | -0.346 | Destabilizing | 0.129 | N | 0.327 | neutral | None | None | None | None | N |
| S/W | 0.371 | ambiguous | 0.4174 | ambiguous | -0.952 | Destabilizing | 0.983 | D | 0.384 | neutral | None | None | None | None | N |
| S/Y | 0.1722 | likely_benign | 0.2102 | benign | -0.708 | Destabilizing | 0.94 | D | 0.365 | 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.