Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19273 | 58042;58043;58044 | chr2:178595537;178595536;178595535 | chr2:179460264;179460263;179460262 |
| N2AB | 17632 | 53119;53120;53121 | chr2:178595537;178595536;178595535 | chr2:179460264;179460263;179460262 |
| N2A | 16705 | 50338;50339;50340 | chr2:178595537;178595536;178595535 | chr2:179460264;179460263;179460262 |
| N2B | 10208 | 30847;30848;30849 | chr2:178595537;178595536;178595535 | chr2:179460264;179460263;179460262 |
| Novex-1 | 10333 | 31222;31223;31224 | chr2:178595537;178595536;178595535 | chr2:179460264;179460263;179460262 |
| Novex-2 | 10400 | 31423;31424;31425 | chr2:178595537;178595536;178595535 | chr2:179460264;179460263;179460262 |
| 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/L | None | None | 0.001 | N | 0.203 | 0.124 | 0.47558534428 | gnomAD-4.0.0 | 1.72985E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.09868E-06 | 0 | 0 |
| S/T | rs778433386  |
None | None | N | 0.065 | 0.054 | 0.0482279557977 | gnomAD-2.1.1 | 5.66E-06 | None | None | None | None | I | None | 9.69E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs778433386 |
None | None | N | 0.065 | 0.054 | 0.0482279557977 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | I | None | 7.27E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs778433386 |
None | None | N | 0.065 | 0.054 | 0.0482279557977 | gnomAD-4.0.0 | 6.84774E-06 | None | None | None | None | I | None | 6.92497E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.5583E-06 | 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 | 0.0608 | likely_benign | 0.0592 | benign | -0.168 | Destabilizing | None | N | 0.049 | neutral | N | 0.461257295 | None | None | I |
| S/C | 0.1097 | likely_benign | 0.1239 | benign | -0.56 | Destabilizing | 0.131 | N | 0.223 | neutral | None | None | None | None | I |
| S/D | 0.1558 | likely_benign | 0.1809 | benign | -0.098 | Destabilizing | None | N | 0.071 | neutral | None | None | None | None | I |
| S/E | 0.1626 | likely_benign | 0.188 | benign | -0.201 | Destabilizing | None | N | 0.076 | neutral | None | None | None | None | I |
| S/F | 0.183 | likely_benign | 0.2131 | benign | -0.946 | Destabilizing | 0.041 | N | 0.467 | neutral | None | None | None | None | I |
| S/G | 0.0705 | likely_benign | 0.0721 | benign | -0.178 | Destabilizing | 0.002 | N | 0.107 | neutral | None | None | None | None | I |
| S/H | 0.1523 | likely_benign | 0.1753 | benign | -0.387 | Destabilizing | 0.069 | N | 0.305 | neutral | None | None | None | None | I |
| S/I | 0.128 | likely_benign | 0.1399 | benign | -0.263 | Destabilizing | 0.004 | N | 0.191 | neutral | None | None | None | None | I |
| S/K | 0.1598 | likely_benign | 0.1898 | benign | -0.434 | Destabilizing | 0.002 | N | 0.147 | neutral | None | None | None | None | I |
| S/L | 0.0811 | likely_benign | 0.087 | benign | -0.263 | Destabilizing | 0.001 | N | 0.203 | neutral | N | 0.516609146 | None | None | I |
| S/M | 0.136 | likely_benign | 0.1428 | benign | -0.347 | Destabilizing | 0.131 | N | 0.309 | neutral | None | None | None | None | I |
| S/N | 0.0812 | likely_benign | 0.084 | benign | -0.267 | Destabilizing | 0.009 | N | 0.222 | neutral | None | None | None | None | I |
| S/P | 0.0623 | likely_benign | 0.0669 | benign | -0.211 | Destabilizing | None | N | 0.101 | neutral | N | 0.471783177 | None | None | I |
| S/Q | 0.1646 | likely_benign | 0.1779 | benign | -0.45 | Destabilizing | None | N | 0.099 | neutral | None | None | None | None | I |
| S/R | 0.1616 | likely_benign | 0.1991 | benign | -0.184 | Destabilizing | 0.004 | N | 0.273 | neutral | None | None | None | None | I |
| S/T | 0.064 | likely_benign | 0.0624 | benign | -0.383 | Destabilizing | None | N | 0.065 | neutral | N | 0.488923899 | None | None | I |
| S/V | 0.1178 | likely_benign | 0.1205 | benign | -0.211 | Destabilizing | None | N | 0.104 | neutral | None | None | None | None | I |
| S/W | 0.2396 | likely_benign | 0.3122 | benign | -1.061 | Destabilizing | 0.633 | D | 0.263 | neutral | None | None | None | None | I |
| S/Y | 0.1546 | likely_benign | 0.1872 | benign | -0.739 | Destabilizing | 0.041 | N | 0.469 | neutral | 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.