Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3968 | 12127;12128;12129 | chr2:178741331;178741330;178741329 | chr2:179606058;179606057;179606056 |
| N2AB | 3651 | 11176;11177;11178 | chr2:178741331;178741330;178741329 | chr2:179606058;179606057;179606056 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3605 | 11038;11039;11040 | chr2:178741331;178741330;178741329 | chr2:179606058;179606057;179606056 |
| Novex-1 | 3730 | 11413;11414;11415 | chr2:178741331;178741330;178741329 | chr2:179606058;179606057;179606056 |
| Novex-2 | 3797 | 11614;11615;11616 | chr2:178741331;178741330;178741329 | chr2:179606058;179606057;179606056 |
| 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 | rs540085214  |
-0.266 | 0.003 | N | 0.084 | 0.072 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/A | rs540085214 |
-0.266 | 0.003 | N | 0.084 | 0.072 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| T/A | rs540085214 |
-0.266 | 0.003 | N | 0.084 | 0.072 | None | gnomAD-4.0.0 | 8.67553E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18663E-05 | 0 | 0 |
| T/I | rs1416083040 |
0.295 | 0.351 | D | 0.505 | 0.189 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/I | rs1416083040 |
0.295 | 0.351 | D | 0.505 | 0.189 | None | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85788E-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 | 0.0714 | likely_benign | 0.067 | benign | -0.392 | Destabilizing | 0.003 | N | 0.084 | neutral | N | 0.510578358 | None | None | I |
| T/C | 0.3972 | ambiguous | 0.4202 | ambiguous | -0.179 | Destabilizing | 0.836 | D | 0.433 | neutral | None | None | None | None | I |
| T/D | 0.3099 | likely_benign | 0.2895 | benign | -0.165 | Destabilizing | None | N | 0.141 | neutral | None | None | None | None | I |
| T/E | 0.1923 | likely_benign | 0.2002 | benign | -0.219 | Destabilizing | 0.001 | N | 0.138 | neutral | None | None | None | None | I |
| T/F | 0.1984 | likely_benign | 0.2064 | benign | -0.713 | Destabilizing | 0.836 | D | 0.567 | neutral | None | None | None | None | I |
| T/G | 0.2571 | likely_benign | 0.2641 | benign | -0.571 | Destabilizing | 0.129 | N | 0.285 | neutral | None | None | None | None | I |
| T/H | 0.2082 | likely_benign | 0.2215 | benign | -0.881 | Destabilizing | 0.002 | N | 0.26 | neutral | None | None | None | None | I |
| T/I | 0.1236 | likely_benign | 0.126 | benign | -0.027 | Destabilizing | 0.351 | N | 0.505 | neutral | D | 0.532377904 | None | None | I |
| T/K | 0.132 | likely_benign | 0.1363 | benign | -0.578 | Destabilizing | 0.001 | N | 0.15 | neutral | None | None | None | None | I |
| T/L | 0.094 | likely_benign | 0.0964 | benign | -0.027 | Destabilizing | 0.228 | N | 0.353 | neutral | None | None | None | None | I |
| T/M | 0.0851 | likely_benign | 0.0865 | benign | 0.116 | Stabilizing | 0.94 | D | 0.435 | neutral | None | None | None | None | I |
| T/N | 0.1229 | likely_benign | 0.1231 | benign | -0.287 | Destabilizing | 0.101 | N | 0.255 | neutral | N | 0.511005206 | None | None | I |
| T/P | 0.2775 | likely_benign | 0.2234 | benign | -0.119 | Destabilizing | 0.523 | D | 0.432 | neutral | D | 0.703298797 | None | None | I |
| T/Q | 0.1676 | likely_benign | 0.1824 | benign | -0.489 | Destabilizing | 0.264 | N | 0.403 | neutral | None | None | None | None | I |
| T/R | 0.1036 | likely_benign | 0.1092 | benign | -0.294 | Destabilizing | 0.264 | N | 0.393 | neutral | None | None | None | None | I |
| T/S | 0.1088 | likely_benign | 0.1138 | benign | -0.446 | Destabilizing | 0.001 | N | 0.093 | neutral | N | 0.503636017 | None | None | I |
| T/V | 0.108 | likely_benign | 0.1109 | benign | -0.119 | Destabilizing | 0.228 | N | 0.259 | neutral | None | None | None | None | I |
| T/W | 0.5439 | ambiguous | 0.5518 | ambiguous | -0.742 | Destabilizing | 0.983 | D | 0.477 | neutral | None | None | None | None | I |
| T/Y | 0.2642 | likely_benign | 0.2712 | benign | -0.486 | Destabilizing | 0.716 | D | 0.587 | 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.