Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27821 | 83686;83687;83688 | chr2:178562671;178562670;178562669 | chr2:179427398;179427397;179427396 |
| N2AB | 26180 | 78763;78764;78765 | chr2:178562671;178562670;178562669 | chr2:179427398;179427397;179427396 |
| N2A | 25253 | 75982;75983;75984 | chr2:178562671;178562670;178562669 | chr2:179427398;179427397;179427396 |
| N2B | 18756 | 56491;56492;56493 | chr2:178562671;178562670;178562669 | chr2:179427398;179427397;179427396 |
| Novex-1 | 18881 | 56866;56867;56868 | chr2:178562671;178562670;178562669 | chr2:179427398;179427397;179427396 |
| Novex-2 | 18948 | 57067;57068;57069 | chr2:178562671;178562670;178562669 | chr2:179427398;179427397;179427396 |
| 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/A | rs1704127036  |
None | 0.165 | N | 0.275 | 0.103 | 0.176091768786 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs1704127036 |
None | 0.165 | N | 0.275 | 0.103 | 0.176091768786 | gnomAD-4.0.0 | 6.57298E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| T/S | None | None | 0.492 | N | 0.267 | 0.122 | 0.152612264143 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0718 | likely_benign | 0.0676 | benign | -0.617 | Destabilizing | 0.165 | N | 0.275 | neutral | N | 0.492759212 | None | None | N |
| T/C | 0.2715 | likely_benign | 0.2624 | benign | -0.331 | Destabilizing | 0.981 | D | 0.306 | neutral | None | None | None | None | N |
| T/D | 0.4667 | ambiguous | 0.4408 | ambiguous | 0.077 | Stabilizing | 0.563 | D | 0.357 | neutral | None | None | None | None | N |
| T/E | 0.393 | ambiguous | 0.3936 | ambiguous | 0.027 | Stabilizing | 0.388 | N | 0.359 | neutral | None | None | None | None | N |
| T/F | 0.1867 | likely_benign | 0.1837 | benign | -0.957 | Destabilizing | 0.69 | D | 0.299 | neutral | None | None | None | None | N |
| T/G | 0.1333 | likely_benign | 0.119 | benign | -0.797 | Destabilizing | 0.563 | D | 0.344 | neutral | None | None | None | None | N |
| T/H | 0.202 | likely_benign | 0.1877 | benign | -1.041 | Destabilizing | 0.005 | N | 0.266 | neutral | None | None | None | None | N |
| T/I | 0.1137 | likely_benign | 0.1163 | benign | -0.252 | Destabilizing | 0.001 | N | 0.139 | neutral | N | 0.520369888 | None | None | N |
| T/K | 0.2562 | likely_benign | 0.2565 | benign | -0.558 | Destabilizing | 0.563 | D | 0.341 | neutral | None | None | None | None | N |
| T/L | 0.0685 | likely_benign | 0.0685 | benign | -0.252 | Destabilizing | 0.043 | N | 0.304 | neutral | None | None | None | None | N |
| T/M | 0.0784 | likely_benign | 0.0787 | benign | -0.049 | Destabilizing | 0.69 | D | 0.303 | neutral | None | None | None | None | N |
| T/N | 0.0883 | likely_benign | 0.0777 | benign | -0.348 | Destabilizing | 0.324 | N | 0.309 | neutral | N | 0.459222641 | None | None | N |
| T/P | 0.069 | likely_benign | 0.0626 | benign | -0.343 | Destabilizing | 0.912 | D | 0.339 | neutral | N | 0.470594428 | None | None | N |
| T/Q | 0.1977 | likely_benign | 0.1931 | benign | -0.543 | Destabilizing | 0.818 | D | 0.327 | neutral | None | None | None | None | N |
| T/R | 0.2327 | likely_benign | 0.2468 | benign | -0.268 | Destabilizing | 0.818 | D | 0.344 | neutral | None | None | None | None | N |
| T/S | 0.0807 | likely_benign | 0.0717 | benign | -0.591 | Destabilizing | 0.492 | N | 0.267 | neutral | N | 0.440290164 | None | None | N |
| T/V | 0.0957 | likely_benign | 0.0962 | benign | -0.343 | Destabilizing | 0.004 | N | 0.107 | neutral | None | None | None | None | N |
| T/W | 0.5344 | ambiguous | 0.5112 | ambiguous | -0.927 | Destabilizing | 0.981 | D | 0.323 | neutral | None | None | None | None | N |
| T/Y | 0.241 | likely_benign | 0.2252 | benign | -0.679 | Destabilizing | 0.69 | D | 0.302 | 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.