Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8987 | 27184;27185;27186 | chr2:178713175;178713174;178713173 | chr2:179577902;179577901;179577900 |
| N2AB | 8670 | 26233;26234;26235 | chr2:178713175;178713174;178713173 | chr2:179577902;179577901;179577900 |
| N2A | 7743 | 23452;23453;23454 | chr2:178713175;178713174;178713173 | chr2:179577902;179577901;179577900 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | None | N | 0.063 | 0.176 | 0.134241683229 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 0 | 0 |
| M/L | None | None | None | N | 0.128 | 0.041 | 0.199424873507 | gnomAD-4.0.0 | 6.84227E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99478E-07 | 0 | 0 |
| M/T | None | None | None | N | 0.084 | 0.142 | 0.332646915603 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.1051 | likely_benign | 0.1183 | benign | -0.605 | Destabilizing | None | N | 0.085 | neutral | None | None | None | None | N |
| M/C | 0.4537 | ambiguous | 0.4668 | ambiguous | -0.596 | Destabilizing | 0.245 | N | 0.277 | neutral | None | None | None | None | N |
| M/D | 0.2387 | likely_benign | 0.2509 | benign | 0.339 | Stabilizing | None | N | 0.155 | neutral | None | None | None | None | N |
| M/E | 0.1451 | likely_benign | 0.1628 | benign | 0.301 | Stabilizing | 0.009 | N | 0.28 | neutral | None | None | None | None | N |
| M/F | 0.1499 | likely_benign | 0.1554 | benign | -0.201 | Destabilizing | 0.044 | N | 0.234 | neutral | None | None | None | None | N |
| M/G | 0.1935 | likely_benign | 0.2058 | benign | -0.813 | Destabilizing | None | N | 0.135 | neutral | None | None | None | None | N |
| M/H | 0.1592 | likely_benign | 0.1688 | benign | 0.005 | Stabilizing | 0.497 | N | 0.35 | neutral | None | None | None | None | N |
| M/I | 0.1297 | likely_benign | 0.1528 | benign | -0.141 | Destabilizing | None | N | 0.063 | neutral | N | 0.435043768 | None | None | N |
| M/K | 0.0785 | likely_benign | 0.0919 | benign | 0.477 | Stabilizing | None | N | 0.109 | neutral | N | 0.320928828 | None | None | N |
| M/L | 0.079 | likely_benign | 0.089 | benign | -0.141 | Destabilizing | None | N | 0.128 | neutral | N | 0.427059003 | None | None | N |
| M/N | 0.1221 | likely_benign | 0.1353 | benign | 0.6 | Stabilizing | 0.009 | N | 0.309 | neutral | None | None | None | None | N |
| M/P | 0.5227 | ambiguous | 0.5682 | pathogenic | -0.266 | Destabilizing | 0.085 | N | 0.392 | neutral | None | None | None | None | N |
| M/Q | 0.1037 | likely_benign | 0.1052 | benign | 0.433 | Stabilizing | 0.044 | N | 0.215 | neutral | None | None | None | None | N |
| M/R | 0.0716 | likely_benign | 0.0883 | benign | 0.907 | Stabilizing | 0.007 | N | 0.318 | neutral | N | 0.355273475 | None | None | N |
| M/S | 0.1047 | likely_benign | 0.1119 | benign | 0.066 | Stabilizing | None | N | 0.087 | neutral | None | None | None | None | N |
| M/T | 0.0751 | likely_benign | 0.0863 | benign | 0.137 | Stabilizing | None | N | 0.084 | neutral | N | 0.359737933 | None | None | N |
| M/V | 0.0637 | likely_benign | 0.0661 | benign | -0.266 | Destabilizing | None | N | 0.074 | neutral | N | 0.389887481 | None | None | N |
| M/W | 0.354 | ambiguous | 0.4221 | ambiguous | -0.157 | Destabilizing | 0.788 | D | 0.277 | neutral | None | None | None | None | N |
| M/Y | 0.242 | likely_benign | 0.2758 | benign | 0.003 | Stabilizing | 0.085 | N | 0.341 | 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.