Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8975 | 27148;27149;27150 | chr2:178713211;178713210;178713209 | chr2:179577938;179577937;179577936 |
| N2AB | 8658 | 26197;26198;26199 | chr2:178713211;178713210;178713209 | chr2:179577938;179577937;179577936 |
| N2A | 7731 | 23416;23417;23418 | chr2:178713211;178713210;178713209 | chr2:179577938;179577937;179577936 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs771894141  |
0.016 | 0.934 | N | 0.393 | 0.332 | 0.502505628439 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/N | rs771894141 |
-0.132 | 0.801 | D | 0.305 | 0.288 | 0.451882325854 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/N | rs771894141 |
-0.132 | 0.801 | D | 0.305 | 0.288 | 0.451882325854 | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85871E-06 | 0 | 0 |
| T/P | rs1162554915 |
None | 0.966 | N | 0.377 | 0.512 | 0.590228304998 | 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/P | rs1162554915 |
None | 0.966 | N | 0.377 | 0.512 | 0.590228304998 | gnomAD-4.0.0 | 6.57272E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-05 | 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 | 0.0771 | likely_benign | 0.0843 | benign | -0.598 | Destabilizing | 0.005 | N | 0.079 | neutral | D | 0.528133727 | None | None | N |
| T/C | 0.4738 | ambiguous | 0.5293 | ambiguous | -0.21 | Destabilizing | 0.993 | D | 0.38 | neutral | None | None | None | None | N |
| T/D | 0.368 | ambiguous | 0.4659 | ambiguous | -0.227 | Destabilizing | 0.842 | D | 0.309 | neutral | None | None | None | None | N |
| T/E | 0.3223 | likely_benign | 0.4058 | ambiguous | -0.277 | Destabilizing | 0.842 | D | 0.314 | neutral | None | None | None | None | N |
| T/F | 0.1827 | likely_benign | 0.2327 | benign | -0.913 | Destabilizing | 0.974 | D | 0.463 | neutral | None | None | None | None | N |
| T/G | 0.2681 | likely_benign | 0.2845 | benign | -0.794 | Destabilizing | 0.525 | D | 0.341 | neutral | None | None | None | None | N |
| T/H | 0.2204 | likely_benign | 0.2618 | benign | -1.159 | Destabilizing | 0.998 | D | 0.426 | neutral | None | None | None | None | N |
| T/I | 0.1456 | likely_benign | 0.1909 | benign | -0.184 | Destabilizing | 0.934 | D | 0.393 | neutral | N | 0.450771808 | None | None | N |
| T/K | 0.2054 | likely_benign | 0.2771 | benign | -0.595 | Destabilizing | 0.067 | N | 0.206 | neutral | None | None | None | None | N |
| T/L | 0.1034 | likely_benign | 0.124 | benign | -0.184 | Destabilizing | 0.842 | D | 0.325 | neutral | None | None | None | None | N |
| T/M | 0.0875 | likely_benign | 0.1013 | benign | 0.213 | Stabilizing | 0.991 | D | 0.389 | neutral | None | None | None | None | N |
| T/N | 0.1321 | likely_benign | 0.1618 | benign | -0.377 | Destabilizing | 0.801 | D | 0.305 | neutral | D | 0.524421418 | None | None | N |
| T/P | 0.469 | ambiguous | 0.46 | ambiguous | -0.291 | Destabilizing | 0.966 | D | 0.377 | neutral | N | 0.514347331 | None | None | N |
| T/Q | 0.2263 | likely_benign | 0.2793 | benign | -0.629 | Destabilizing | 0.949 | D | 0.4 | neutral | None | None | None | None | N |
| T/R | 0.149 | likely_benign | 0.1919 | benign | -0.292 | Destabilizing | 0.728 | D | 0.353 | neutral | None | None | None | None | N |
| T/S | 0.0968 | likely_benign | 0.1063 | benign | -0.585 | Destabilizing | 0.062 | N | 0.079 | neutral | N | 0.482630724 | None | None | N |
| T/V | 0.1145 | likely_benign | 0.1325 | benign | -0.291 | Destabilizing | 0.728 | D | 0.251 | neutral | None | None | None | None | N |
| T/W | 0.5716 | likely_pathogenic | 0.6526 | pathogenic | -0.877 | Destabilizing | 0.998 | D | 0.478 | neutral | None | None | None | None | N |
| T/Y | 0.2438 | likely_benign | 0.2989 | benign | -0.631 | Destabilizing | 0.991 | D | 0.464 | 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.