Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4786 | 14581;14582;14583 | chr2:178738097;178738096;178738095 | chr2:179602824;179602823;179602822 |
| N2AB | 4469 | 13630;13631;13632 | chr2:178738097;178738096;178738095 | chr2:179602824;179602823;179602822 |
| N2A | 3542 | 10849;10850;10851 | chr2:178738097;178738096;178738095 | chr2:179602824;179602823;179602822 |
| N2B | 4423 | 13492;13493;13494 | chr2:178738097;178738096;178738095 | chr2:179602824;179602823;179602822 |
| Novex-1 | 4548 | 13867;13868;13869 | chr2:178738097;178738096;178738095 | chr2:179602824;179602823;179602822 |
| Novex-2 | 4615 | 14068;14069;14070 | chr2:178738097;178738096;178738095 | chr2:179602824;179602823;179602822 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 0.473 | N | 0.499 | 0.245 | 0.518421792786 | gnomAD-4.0.0 | 1.59275E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43316E-05 | 0 |
| T/R | rs752484250  |
-0.08 | 0.473 | N | 0.55 | 0.282 | 0.655901375025 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/R | rs752484250 |
-0.08 | 0.473 | N | 0.55 | 0.282 | 0.655901375025 | gnomAD-4.0.0 | 4.77824E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.5858E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0802 | likely_benign | 0.099 | benign | -1.143 | Destabilizing | 0.139 | N | 0.313 | neutral | N | 0.509798611 | None | None | I |
| T/C | 0.4816 | ambiguous | 0.5731 | pathogenic | -0.65 | Destabilizing | 0.995 | D | 0.491 | neutral | None | None | None | None | I |
| T/D | 0.3694 | ambiguous | 0.474 | ambiguous | -0.019 | Destabilizing | 0.007 | N | 0.245 | neutral | None | None | None | None | I |
| T/E | 0.2679 | likely_benign | 0.3456 | ambiguous | 0.029 | Stabilizing | 0.329 | N | 0.449 | neutral | None | None | None | None | I |
| T/F | 0.1781 | likely_benign | 0.219 | benign | -1.121 | Destabilizing | 0.007 | N | 0.391 | neutral | None | None | None | None | I |
| T/G | 0.2762 | likely_benign | 0.3545 | ambiguous | -1.442 | Destabilizing | 0.329 | N | 0.463 | neutral | None | None | None | None | I |
| T/H | 0.2035 | likely_benign | 0.255 | benign | -1.594 | Destabilizing | 0.944 | D | 0.525 | neutral | None | None | None | None | I |
| T/I | 0.1201 | likely_benign | 0.1418 | benign | -0.421 | Destabilizing | 0.473 | N | 0.499 | neutral | N | 0.514179758 | None | None | I |
| T/K | 0.1324 | likely_benign | 0.1741 | benign | -0.585 | Destabilizing | 0.023 | N | 0.243 | neutral | N | 0.463355197 | None | None | I |
| T/L | 0.0807 | likely_benign | 0.0925 | benign | -0.421 | Destabilizing | 0.329 | N | 0.409 | neutral | None | None | None | None | I |
| T/M | 0.0798 | likely_benign | 0.0862 | benign | -0.159 | Destabilizing | 0.176 | N | 0.333 | neutral | None | None | None | None | I |
| T/N | 0.1153 | likely_benign | 0.1393 | benign | -0.629 | Destabilizing | 0.007 | N | 0.258 | neutral | None | None | None | None | I |
| T/P | 0.1518 | likely_benign | 0.2026 | benign | -0.63 | Destabilizing | 0.006 | N | 0.336 | neutral | N | 0.505195046 | None | None | I |
| T/Q | 0.1693 | likely_benign | 0.2129 | benign | -0.718 | Destabilizing | 0.704 | D | 0.561 | neutral | None | None | None | None | I |
| T/R | 0.1072 | likely_benign | 0.1484 | benign | -0.463 | Destabilizing | 0.473 | N | 0.55 | neutral | N | 0.499309766 | None | None | I |
| T/S | 0.1078 | likely_benign | 0.1319 | benign | -1.044 | Destabilizing | 0.065 | N | 0.226 | neutral | N | 0.466196885 | None | None | I |
| T/V | 0.1034 | likely_benign | 0.1184 | benign | -0.63 | Destabilizing | 0.007 | N | 0.229 | neutral | None | None | None | None | I |
| T/W | 0.5039 | ambiguous | 0.6215 | pathogenic | -0.992 | Destabilizing | 0.995 | D | 0.531 | neutral | None | None | None | None | I |
| T/Y | 0.2365 | likely_benign | 0.2891 | benign | -0.76 | Destabilizing | 0.807 | D | 0.585 | 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.