Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4668 | 14227;14228;14229 | chr2:178739231;178739230;178739229 | chr2:179603958;179603957;179603956 |
| N2AB | 4351 | 13276;13277;13278 | chr2:178739231;178739230;178739229 | chr2:179603958;179603957;179603956 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4305 | 13138;13139;13140 | chr2:178739231;178739230;178739229 | chr2:179603958;179603957;179603956 |
| Novex-1 | 4430 | 13513;13514;13515 | chr2:178739231;178739230;178739229 | chr2:179603958;179603957;179603956 |
| Novex-2 | 4497 | 13714;13715;13716 | chr2:178739231;178739230;178739229 | chr2:179603958;179603957;179603956 |
| 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 | rs758920941  |
-0.383 | None | N | 0.063 | 0.024 | None | gnomAD-2.1.1 | 3.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.22E-05 | 0 |
| T/A | rs758920941 |
-0.383 | None | N | 0.063 | 0.024 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| T/A | rs758920941 |
-0.383 | None | N | 0.063 | 0.024 | None | gnomAD-4.0.0 | 2.08029E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.49281E-05 | 0 | 6.52763E-05 |
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 | 0.062 | likely_benign | 0.0632 | benign | -0.649 | Destabilizing | None | N | 0.063 | neutral | N | 0.44321689 | None | None | N |
| T/C | 0.3063 | likely_benign | 0.3069 | benign | -0.434 | Destabilizing | 0.245 | N | 0.301 | neutral | None | None | None | None | N |
| T/D | 0.248 | likely_benign | 0.2753 | benign | -0.704 | Destabilizing | 0.018 | N | 0.331 | neutral | None | None | None | None | N |
| T/E | 0.147 | likely_benign | 0.1571 | benign | -0.74 | Destabilizing | 0.009 | N | 0.337 | neutral | None | None | None | None | N |
| T/F | 0.1795 | likely_benign | 0.1979 | benign | -0.836 | Destabilizing | 0.138 | N | 0.467 | neutral | None | None | None | None | N |
| T/G | 0.1415 | likely_benign | 0.1565 | benign | -0.865 | Destabilizing | None | N | 0.107 | neutral | None | None | None | None | N |
| T/H | 0.1667 | likely_benign | 0.177 | benign | -1.184 | Destabilizing | 0.138 | N | 0.388 | neutral | None | None | None | None | N |
| T/I | 0.1137 | likely_benign | 0.1216 | benign | -0.173 | Destabilizing | 0.002 | N | 0.336 | neutral | N | 0.448579271 | None | None | N |
| T/K | 0.0835 | likely_benign | 0.0875 | benign | -0.819 | Destabilizing | None | N | 0.115 | neutral | None | None | None | None | N |
| T/L | 0.0742 | likely_benign | 0.0796 | benign | -0.173 | Destabilizing | 0.001 | N | 0.281 | neutral | None | None | None | None | N |
| T/M | 0.0786 | likely_benign | 0.0803 | benign | 0.23 | Stabilizing | 0.002 | N | 0.231 | neutral | None | None | None | None | N |
| T/N | 0.1117 | likely_benign | 0.1204 | benign | -0.698 | Destabilizing | 0.007 | N | 0.195 | neutral | N | 0.448778635 | None | None | N |
| T/P | 0.0941 | likely_benign | 0.0985 | benign | -0.301 | Destabilizing | 0.065 | N | 0.377 | neutral | N | 0.418874761 | None | None | N |
| T/Q | 0.1239 | likely_benign | 0.1309 | benign | -0.991 | Destabilizing | 0.001 | N | 0.209 | neutral | None | None | None | None | N |
| T/R | 0.0638 | likely_benign | 0.0707 | benign | -0.438 | Destabilizing | None | N | 0.181 | neutral | None | None | None | None | N |
| T/S | 0.0975 | likely_benign | 0.0981 | benign | -0.874 | Destabilizing | None | N | 0.11 | neutral | N | 0.448239979 | None | None | N |
| T/V | 0.1008 | likely_benign | 0.1047 | benign | -0.301 | Destabilizing | None | N | 0.103 | neutral | None | None | None | None | N |
| T/W | 0.3761 | ambiguous | 0.4107 | ambiguous | -0.779 | Destabilizing | 0.788 | D | 0.371 | neutral | None | None | None | None | N |
| T/Y | 0.1907 | likely_benign | 0.2087 | benign | -0.55 | Destabilizing | 0.245 | N | 0.476 | 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.