Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18532 | 55819;55820;55821 | chr2:178601403;178601402;178601401 | chr2:179466130;179466129;179466128 |
| N2AB | 16891 | 50896;50897;50898 | chr2:178601403;178601402;178601401 | chr2:179466130;179466129;179466128 |
| N2A | 15964 | 48115;48116;48117 | chr2:178601403;178601402;178601401 | chr2:179466130;179466129;179466128 |
| N2B | 9467 | 28624;28625;28626 | chr2:178601403;178601402;178601401 | chr2:179466130;179466129;179466128 |
| Novex-1 | 9592 | 28999;29000;29001 | chr2:178601403;178601402;178601401 | chr2:179466130;179466129;179466128 |
| Novex-2 | 9659 | 29200;29201;29202 | chr2:178601403;178601402;178601401 | chr2:179466130;179466129;179466128 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 0.001 | N | 0.161 | 0.079 | 0.171388866994 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| D/H | rs773425209  |
-0.016 | 0.108 | N | 0.297 | 0.066 | 0.139678290688 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| D/H | rs773425209 |
-0.016 | 0.108 | N | 0.297 | 0.066 | 0.139678290688 | gnomAD-4.0.0 | 1.59336E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.7866E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs773425209 |
0.438 | None | N | 0.053 | 0.12 | 0.117506650769 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 1.94074E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs773425209 |
0.438 | None | N | 0.053 | 0.12 | 0.117506650769 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs773425209 |
0.438 | None | N | 0.053 | 0.12 | 0.117506650769 | gnomAD-4.0.0 | 5.13138E-06 | None | None | None | None | I | None | 6.77323E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.0885 | likely_benign | 0.0922 | benign | -0.187 | Destabilizing | None | N | 0.089 | neutral | N | 0.409409897 | None | None | I |
| D/C | 0.3201 | likely_benign | 0.3454 | ambiguous | 0.173 | Stabilizing | 0.497 | N | 0.295 | neutral | None | None | None | None | I |
| D/E | 0.1162 | likely_benign | 0.1194 | benign | -0.31 | Destabilizing | 0.003 | N | 0.113 | neutral | N | 0.428726376 | None | None | I |
| D/F | 0.3074 | likely_benign | 0.3503 | ambiguous | -0.317 | Destabilizing | 0.085 | N | 0.407 | neutral | None | None | None | None | I |
| D/G | 0.1071 | likely_benign | 0.1207 | benign | -0.388 | Destabilizing | 0.001 | N | 0.161 | neutral | N | 0.419818891 | None | None | I |
| D/H | 0.1322 | likely_benign | 0.1594 | benign | -0.383 | Destabilizing | 0.108 | N | 0.297 | neutral | N | 0.438732726 | None | None | I |
| D/I | 0.1677 | likely_benign | 0.189 | benign | 0.29 | Stabilizing | 0.044 | N | 0.38 | neutral | None | None | None | None | I |
| D/K | 0.193 | likely_benign | 0.269 | benign | 0.194 | Stabilizing | 0.009 | N | 0.241 | neutral | None | None | None | None | I |
| D/L | 0.1718 | likely_benign | 0.2039 | benign | 0.29 | Stabilizing | 0.018 | N | 0.271 | neutral | None | None | None | None | I |
| D/M | 0.324 | likely_benign | 0.3418 | ambiguous | 0.526 | Stabilizing | 0.497 | N | 0.305 | neutral | None | None | None | None | I |
| D/N | 0.0557 | likely_benign | 0.0543 | benign | 0.086 | Stabilizing | None | N | 0.053 | neutral | N | 0.437577933 | None | None | I |
| D/P | 0.5591 | ambiguous | 0.6066 | pathogenic | 0.154 | Stabilizing | 0.085 | N | 0.309 | neutral | None | None | None | None | I |
| D/Q | 0.1649 | likely_benign | 0.1917 | benign | 0.106 | Stabilizing | 0.044 | N | 0.18 | neutral | None | None | None | None | I |
| D/R | 0.214 | likely_benign | 0.2979 | benign | 0.255 | Stabilizing | 0.018 | N | 0.306 | neutral | None | None | None | None | I |
| D/S | 0.0704 | likely_benign | 0.0711 | benign | -0.061 | Destabilizing | None | N | 0.057 | neutral | None | None | None | None | I |
| D/T | 0.11 | likely_benign | 0.1123 | benign | 0.083 | Stabilizing | None | N | 0.082 | neutral | None | None | None | None | I |
| D/V | 0.1133 | likely_benign | 0.1263 | benign | 0.154 | Stabilizing | 0.014 | N | 0.272 | neutral | N | 0.430862604 | None | None | I |
| D/W | 0.6937 | likely_pathogenic | 0.7389 | pathogenic | -0.276 | Destabilizing | 0.788 | D | 0.287 | neutral | None | None | None | None | I |
| D/Y | 0.1179 | likely_benign | 0.1339 | benign | -0.11 | Destabilizing | 0.427 | N | 0.391 | neutral | N | 0.469786352 | 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.