Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27971 | 84136;84137;84138 | chr2:178562221;178562220;178562219 | chr2:179426948;179426947;179426946 |
| N2AB | 26330 | 79213;79214;79215 | chr2:178562221;178562220;178562219 | chr2:179426948;179426947;179426946 |
| N2A | 25403 | 76432;76433;76434 | chr2:178562221;178562220;178562219 | chr2:179426948;179426947;179426946 |
| N2B | 18906 | 56941;56942;56943 | chr2:178562221;178562220;178562219 | chr2:179426948;179426947;179426946 |
| Novex-1 | 19031 | 57316;57317;57318 | chr2:178562221;178562220;178562219 | chr2:179426948;179426947;179426946 |
| Novex-2 | 19098 | 57517;57518;57519 | chr2:178562221;178562220;178562219 | chr2:179426948;179426947;179426946 |
| 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 | rs749273430  |
0.138 | 0.978 | N | 0.587 | 0.406 | 0.339316883193 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| T/I | rs749273430 |
0.138 | 0.978 | N | 0.587 | 0.406 | 0.339316883193 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs749273430 |
0.138 | 0.978 | N | 0.587 | 0.406 | 0.339316883193 | gnomAD-4.0.0 | 5.58137E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.23464E-05 | None | 0 | 0 | 6.78325E-06 | 0 | 0 |
| T/S | rs956060755 |
0.148 | 0.865 | N | 0.433 | 0.162 | 0.134241683229 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| T/S | rs956060755 |
0.148 | 0.865 | N | 0.433 | 0.162 | 0.134241683229 | gnomAD-4.0.0 | 6.8476E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99802E-07 | 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 | 0.1264 | likely_benign | 0.1231 | benign | -0.753 | Destabilizing | 0.039 | N | 0.283 | neutral | N | 0.454437893 | None | None | I |
| T/C | 0.5099 | ambiguous | 0.5069 | ambiguous | -0.423 | Destabilizing | 0.998 | D | 0.572 | neutral | None | None | None | None | I |
| T/D | 0.611 | likely_pathogenic | 0.6379 | pathogenic | 0.215 | Stabilizing | 0.992 | D | 0.586 | neutral | None | None | None | None | I |
| T/E | 0.525 | ambiguous | 0.5422 | ambiguous | 0.258 | Stabilizing | 0.983 | D | 0.562 | neutral | None | None | None | None | I |
| T/F | 0.4392 | ambiguous | 0.4552 | ambiguous | -0.793 | Destabilizing | 0.992 | D | 0.612 | neutral | None | None | None | None | I |
| T/G | 0.4528 | ambiguous | 0.4303 | ambiguous | -1.035 | Destabilizing | 0.895 | D | 0.533 | neutral | None | None | None | None | I |
| T/H | 0.3258 | likely_benign | 0.345 | ambiguous | -1.149 | Destabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | I |
| T/I | 0.2153 | likely_benign | 0.218 | benign | -0.087 | Destabilizing | 0.978 | D | 0.587 | neutral | N | 0.474694969 | None | None | I |
| T/K | 0.3391 | likely_benign | 0.3575 | ambiguous | -0.416 | Destabilizing | 0.983 | D | 0.561 | neutral | None | None | None | None | I |
| T/L | 0.1514 | likely_benign | 0.1522 | benign | -0.087 | Destabilizing | 0.895 | D | 0.527 | neutral | None | None | None | None | I |
| T/M | 0.1392 | likely_benign | 0.1378 | benign | -0.057 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | I |
| T/N | 0.1891 | likely_benign | 0.1922 | benign | -0.501 | Destabilizing | 0.989 | D | 0.569 | neutral | N | 0.449496688 | None | None | I |
| T/P | 0.3914 | ambiguous | 0.4439 | ambiguous | -0.276 | Destabilizing | 0.989 | D | 0.581 | neutral | N | 0.449954442 | None | None | I |
| T/Q | 0.331 | likely_benign | 0.3392 | benign | -0.517 | Destabilizing | 0.992 | D | 0.584 | neutral | None | None | None | None | I |
| T/R | 0.2606 | likely_benign | 0.2927 | benign | -0.297 | Destabilizing | 0.983 | D | 0.567 | neutral | None | None | None | None | I |
| T/S | 0.1413 | likely_benign | 0.1391 | benign | -0.837 | Destabilizing | 0.865 | D | 0.433 | neutral | N | 0.487085954 | None | None | I |
| T/V | 0.1594 | likely_benign | 0.1558 | benign | -0.276 | Destabilizing | 0.895 | D | 0.455 | neutral | None | None | None | None | I |
| T/W | 0.8252 | likely_pathogenic | 0.8452 | pathogenic | -0.782 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | I |
| T/Y | 0.3869 | ambiguous | 0.4108 | ambiguous | -0.501 | Destabilizing | 0.997 | D | 0.602 | 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.