Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 179 | 760;761;762 | chr2:178800443;178800442;178800441 | chr2:179665170;179665169;179665168 |
| N2AB | 179 | 760;761;762 | chr2:178800443;178800442;178800441 | chr2:179665170;179665169;179665168 |
| N2A | 179 | 760;761;762 | chr2:178800443;178800442;178800441 | chr2:179665170;179665169;179665168 |
| N2B | 179 | 760;761;762 | chr2:178800443;178800442;178800441 | chr2:179665170;179665169;179665168 |
| Novex-1 | 179 | 760;761;762 | chr2:178800443;178800442;178800441 | chr2:179665170;179665169;179665168 |
| Novex-2 | 179 | 760;761;762 | chr2:178800443;178800442;178800441 | chr2:179665170;179665169;179665168 |
| Novex-3 | 179 | 760;761;762 | chr2:178800443;178800442;178800441 | chr2:179665170;179665169;179665168 |
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 | rs1453734474  |
-0.743 | 0.053 | N | 0.197 | 0.281 | 0.197625483188 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | 0.136(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/A | rs1453734474 |
-0.743 | 0.053 | N | 0.197 | 0.281 | 0.197625483188 | gnomAD-4.0.0 | 2.73623E-06 | None | None | None | 0.136(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.63725E-05 | 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 | 0.1439 | likely_benign | 0.1798 | benign | -0.836 | Destabilizing | 0.053 | N | 0.197 | neutral | N | 0.515210998 | None | 0.136(TCAP) | N |
| T/C | 0.8303 | likely_pathogenic | 0.8812 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.567 | neutral | None | None | None | -0.69(TCAP) | N |
| T/D | 0.7212 | likely_pathogenic | 0.8074 | pathogenic | -1.332 | Destabilizing | 0.983 | D | 0.503 | neutral | None | None | None | -0.522(TCAP) | N |
| T/E | 0.5265 | ambiguous | 0.6071 | pathogenic | -1.283 | Destabilizing | 0.983 | D | 0.491 | neutral | None | None | None | -0.657(TCAP) | N |
| T/F | 0.5785 | likely_pathogenic | 0.6653 | pathogenic | -0.753 | Destabilizing | 0.999 | D | 0.671 | neutral | None | None | None | -0.102(TCAP) | N |
| T/G | 0.5123 | ambiguous | 0.6113 | pathogenic | -1.142 | Destabilizing | 0.993 | D | 0.627 | neutral | None | None | None | 0.18(TCAP) | N |
| T/H | 0.589 | likely_pathogenic | 0.6909 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | 0.451(TCAP) | N |
| T/I | 0.3993 | ambiguous | 0.4834 | ambiguous | -0.093 | Destabilizing | 0.648 | D | 0.314 | neutral | N | 0.519543168 | None | -0.071(TCAP) | N |
| T/K | 0.5218 | ambiguous | 0.602 | pathogenic | -1.028 | Destabilizing | 0.987 | D | 0.503 | neutral | None | None | None | -1.011(TCAP) | N |
| T/L | 0.2741 | likely_benign | 0.3414 | ambiguous | -0.093 | Destabilizing | 0.975 | D | 0.487 | neutral | None | None | None | -0.071(TCAP) | N |
| T/M | 0.1933 | likely_benign | 0.2287 | benign | 0.2 | Stabilizing | 0.998 | D | 0.578 | neutral | None | None | None | 0.114(TCAP) | N |
| T/N | 0.3136 | likely_benign | 0.4031 | ambiguous | -1.241 | Destabilizing | 0.978 | D | 0.496 | neutral | D | 0.547604308 | None | -0.662(TCAP) | N |
| T/P | 0.8175 | likely_pathogenic | 0.9013 | pathogenic | -0.308 | Destabilizing | 0.989 | D | 0.553 | neutral | D | 0.696936838 | None | 0.01(TCAP) | N |
| T/Q | 0.4076 | ambiguous | 0.4849 | ambiguous | -1.363 | Destabilizing | 0.996 | D | 0.567 | neutral | None | None | None | -0.65(TCAP) | N |
| T/R | 0.4348 | ambiguous | 0.5186 | ambiguous | -0.814 | Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | -0.91(TCAP) | N |
| T/S | 0.1697 | likely_benign | 0.2019 | benign | -1.364 | Destabilizing | 0.139 | N | 0.143 | neutral | N | 0.483818012 | None | -0.523(TCAP) | N |
| T/V | 0.2696 | likely_benign | 0.3102 | benign | -0.308 | Destabilizing | 0.921 | D | 0.445 | neutral | None | None | None | 0.01(TCAP) | N |
| T/W | 0.8726 | likely_pathogenic | 0.909 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | -0.306(TCAP) | N |
| T/Y | 0.6591 | likely_pathogenic | 0.7429 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | 0.047(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.