Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 132 | 619;620;621 | chr2:178800584;178800583;178800582 | chr2:179665311;179665310;179665309 |
| N2AB | 132 | 619;620;621 | chr2:178800584;178800583;178800582 | chr2:179665311;179665310;179665309 |
| N2A | 132 | 619;620;621 | chr2:178800584;178800583;178800582 | chr2:179665311;179665310;179665309 |
| N2B | 132 | 619;620;621 | chr2:178800584;178800583;178800582 | chr2:179665311;179665310;179665309 |
| Novex-1 | 132 | 619;620;621 | chr2:178800584;178800583;178800582 | chr2:179665311;179665310;179665309 |
| Novex-2 | 132 | 619;620;621 | chr2:178800584;178800583;178800582 | chr2:179665311;179665310;179665309 |
| Novex-3 | 132 | 619;620;621 | chr2:178800584;178800583;178800582 | chr2:179665311;179665310;179665309 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1337018303  |
None | 0.005 | N | 0.161 | 0.276 | 0.149567049428 | gnomAD-4.0.0 | 1.59065E-06 | None | None | None | -0.226(TCAP) | N | None | 0 | 0 | None | 0 | 2.773E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0729 | likely_benign | 0.0779 | benign | -0.356 | Destabilizing | 0.005 | N | 0.161 | neutral | N | 0.427162268 | None | -0.226(TCAP) | N |
| T/C | 0.785 | likely_pathogenic | 0.8085 | pathogenic | -0.328 | Destabilizing | 0.999 | D | 0.583 | neutral | None | None | None | 0.028(TCAP) | N |
| T/D | 0.4153 | ambiguous | 0.4739 | ambiguous | 0.121 | Stabilizing | 0.921 | D | 0.533 | neutral | None | None | None | -0.242(TCAP) | N |
| T/E | 0.2622 | likely_benign | 0.3084 | benign | 0.057 | Stabilizing | 0.917 | D | 0.561 | neutral | None | None | None | -0.277(TCAP) | N |
| T/F | 0.3809 | ambiguous | 0.4334 | ambiguous | -0.738 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | None | None | None | 0.01(TCAP) | N |
| T/G | 0.4168 | ambiguous | 0.4809 | ambiguous | -0.512 | Destabilizing | 0.933 | D | 0.615 | neutral | None | None | None | -0.251(TCAP) | N |
| T/H | 0.374 | ambiguous | 0.4284 | ambiguous | -0.755 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | 0.412(TCAP) | N |
| T/I | 0.1928 | likely_benign | 0.2169 | benign | -0.062 | Destabilizing | 0.988 | D | 0.573 | neutral | N | 0.503135383 | None | -0.169(TCAP) | N |
| T/K | 0.2214 | likely_benign | 0.2578 | benign | -0.482 | Destabilizing | 0.921 | D | 0.554 | neutral | N | 0.403574354 | None | -0.328(TCAP) | N |
| T/L | 0.1239 | likely_benign | 0.1389 | benign | -0.062 | Destabilizing | 0.939 | D | 0.574 | neutral | None | None | None | -0.169(TCAP) | N |
| T/M | 0.1107 | likely_benign | 0.125 | benign | 0.014 | Stabilizing | 0.999 | D | 0.575 | neutral | None | None | None | 0.39(TCAP) | N |
| T/N | 0.1339 | likely_benign | 0.1496 | benign | -0.273 | Destabilizing | 0.921 | D | 0.512 | neutral | None | None | None | -0.648(TCAP) | N |
| T/P | 0.1648 | likely_benign | 0.1866 | benign | -0.13 | Destabilizing | 0.947 | D | 0.596 | neutral | N | 0.409422351 | None | -0.185(TCAP) | N |
| T/Q | 0.2095 | likely_benign | 0.2451 | benign | -0.476 | Destabilizing | 0.981 | D | 0.585 | neutral | None | None | None | -0.467(TCAP) | N |
| T/R | 0.206 | likely_benign | 0.2453 | benign | -0.192 | Destabilizing | 0.995 | D | 0.591 | neutral | N | 0.431773827 | None | -0.264(TCAP) | N |
| T/S | 0.1264 | likely_benign | 0.139 | benign | -0.486 | Destabilizing | 0.031 | N | 0.247 | neutral | N | 0.477378345 | None | -0.575(TCAP) | N |
| T/V | 0.142 | likely_benign | 0.1543 | benign | -0.13 | Destabilizing | 0.917 | D | 0.531 | neutral | None | None | None | -0.185(TCAP) | N |
| T/W | 0.8117 | likely_pathogenic | 0.8556 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | 0.129(TCAP) | N |
| T/Y | 0.4272 | ambiguous | 0.4887 | ambiguous | -0.476 | Destabilizing | 0.999 | D | 0.674 | neutral | None | None | None | 0.191(TCAP) | 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.