Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7966 | 24121;24122;24123 | chr2:178719596;178719595;178719594 | chr2:179584323;179584322;179584321 |
| N2AB | 7649 | 23170;23171;23172 | chr2:178719596;178719595;178719594 | chr2:179584323;179584322;179584321 |
| N2A | 6722 | 20389;20390;20391 | chr2:178719596;178719595;178719594 | chr2:179584323;179584322;179584321 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs766127559  |
-0.228 | 0.012 | N | 0.214 | 0.159 | 0.173771789658 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| S/G | rs766127559 |
-0.228 | 0.012 | N | 0.214 | 0.159 | 0.173771789658 | gnomAD-4.0.0 | 6.37885E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.60289E-06 | 1.43382E-05 | 0 |
| S/R | rs773116614 |
0.124 | None | N | 0.197 | 0.142 | 0.311691414656 | gnomAD-2.1.1 | 1.59307E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.24044E-04 | 0 |
| S/R | rs773116614 |
0.124 | None | N | 0.197 | 0.142 | 0.311691414656 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| S/R | rs773116614 |
0.124 | None | N | 0.197 | 0.142 | 0.311691414656 | gnomAD-4.0.0 | 3.72202E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.09163E-06 | 0 | 0 |
| S/T | rs762651037 |
0.062 | 0.024 | D | 0.229 | 0.162 | 0.178374595973 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| S/T | rs762651037 |
0.062 | 0.024 | D | 0.229 | 0.162 | 0.178374595973 | 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 |
| S/T | rs762651037 |
0.062 | 0.024 | D | 0.229 | 0.162 | 0.178374595973 | gnomAD-4.0.0 | 4.96211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.09103E-06 | 0 | 3.20574E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.068 | likely_benign | 0.0702 | benign | -0.238 | Destabilizing | None | N | 0.082 | neutral | None | None | None | None | N |
| S/C | 0.1414 | likely_benign | 0.1531 | benign | -0.472 | Destabilizing | 0.828 | D | 0.277 | neutral | N | 0.500348133 | None | None | N |
| S/D | 0.1466 | likely_benign | 0.156 | benign | -0.144 | Destabilizing | None | N | 0.101 | neutral | None | None | None | None | N |
| S/E | 0.2203 | likely_benign | 0.2504 | benign | -0.255 | Destabilizing | None | N | 0.075 | neutral | None | None | None | None | N |
| S/F | 0.1957 | likely_benign | 0.2005 | benign | -1.005 | Destabilizing | 0.356 | N | 0.318 | neutral | None | None | None | None | N |
| S/G | 0.0795 | likely_benign | 0.0847 | benign | -0.253 | Destabilizing | 0.012 | N | 0.214 | neutral | N | 0.5034515 | None | None | N |
| S/H | 0.1808 | likely_benign | 0.2135 | benign | -0.562 | Destabilizing | 0.001 | N | 0.182 | neutral | None | None | None | None | N |
| S/I | 0.1124 | likely_benign | 0.1164 | benign | -0.323 | Destabilizing | 0.295 | N | 0.358 | neutral | N | 0.519863747 | None | None | N |
| S/K | 0.2715 | likely_benign | 0.3327 | benign | -0.446 | Destabilizing | 0.016 | N | 0.237 | neutral | None | None | None | None | N |
| S/L | 0.0951 | likely_benign | 0.099 | benign | -0.323 | Destabilizing | 0.072 | N | 0.352 | neutral | None | None | None | None | N |
| S/M | 0.1678 | likely_benign | 0.1767 | benign | -0.24 | Destabilizing | 0.628 | D | 0.275 | neutral | None | None | None | None | N |
| S/N | 0.0748 | likely_benign | 0.0785 | benign | -0.253 | Destabilizing | None | N | 0.175 | neutral | N | 0.498333682 | None | None | N |
| S/P | 0.1093 | likely_benign | 0.1126 | benign | -0.274 | Destabilizing | 0.136 | N | 0.287 | neutral | None | None | None | None | N |
| S/Q | 0.241 | likely_benign | 0.2916 | benign | -0.479 | Destabilizing | 0.038 | N | 0.165 | neutral | None | None | None | None | N |
| S/R | 0.2024 | likely_benign | 0.2616 | benign | -0.201 | Destabilizing | None | N | 0.197 | neutral | N | 0.492157071 | None | None | N |
| S/T | 0.0716 | likely_benign | 0.074 | benign | -0.367 | Destabilizing | 0.024 | N | 0.229 | neutral | D | 0.52240262 | None | None | N |
| S/V | 0.1349 | likely_benign | 0.1398 | benign | -0.274 | Destabilizing | 0.072 | N | 0.33 | neutral | None | None | None | None | N |
| S/W | 0.2831 | likely_benign | 0.3234 | benign | -1.087 | Destabilizing | 0.864 | D | 0.329 | neutral | None | None | None | None | N |
| S/Y | 0.1646 | likely_benign | 0.1721 | benign | -0.783 | Destabilizing | 0.214 | N | 0.338 | 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.