Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14278 | 43057;43058;43059 | chr2:178633527;178633526;178633525 | chr2:179498254;179498253;179498252 |
| N2AB | 12637 | 38134;38135;38136 | chr2:178633527;178633526;178633525 | chr2:179498254;179498253;179498252 |
| N2A | 11710 | 35353;35354;35355 | chr2:178633527;178633526;178633525 | chr2:179498254;179498253;179498252 |
| N2B | 5213 | 15862;15863;15864 | chr2:178633527;178633526;178633525 | chr2:179498254;179498253;179498252 |
| Novex-1 | 5338 | 16237;16238;16239 | chr2:178633527;178633526;178633525 | chr2:179498254;179498253;179498252 |
| Novex-2 | 5405 | 16438;16439;16440 | chr2:178633527;178633526;178633525 | chr2:179498254;179498253;179498252 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs754085836  |
None | 0.056 | D | 0.272 | 0.08 | 0.126345400529 | 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 |
| K/N | rs754085836 |
None | 0.056 | D | 0.272 | 0.08 | 0.126345400529 | gnomAD-4.0.0 | 2.54138E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.47567E-05 | 0 | 0 |
| K/Q | rs1167849818 |
None | 0.967 | N | 0.553 | 0.238 | 0.255270683199 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs1167849818 |
None | 0.967 | N | 0.553 | 0.238 | 0.255270683199 | gnomAD-4.0.0 | 6.57324E-06 | None | None | None | None | N | None | 2.41255E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | None | None | 0.892 | N | 0.554 | 0.24 | 0.425028116352 | gnomAD-4.0.0 | 9.60257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.05E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3358 | likely_benign | 0.3697 | ambiguous | 0.001 | Stabilizing | 0.916 | D | 0.531 | neutral | None | None | None | None | N |
| K/C | 0.7941 | likely_pathogenic | 0.8009 | pathogenic | -0.212 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| K/D | 0.6158 | likely_pathogenic | 0.6623 | pathogenic | 0.274 | Stabilizing | 0.95 | D | 0.563 | neutral | None | None | None | None | N |
| K/E | 0.2021 | likely_benign | 0.2117 | benign | 0.306 | Stabilizing | 0.892 | D | 0.537 | neutral | N | 0.507583286 | None | None | N |
| K/F | 0.7514 | likely_pathogenic | 0.7626 | pathogenic | -0.078 | Destabilizing | 0.999 | D | 0.658 | neutral | None | None | None | None | N |
| K/G | 0.5313 | ambiguous | 0.5591 | ambiguous | -0.239 | Destabilizing | 0.845 | D | 0.542 | neutral | None | None | None | None | N |
| K/H | 0.3046 | likely_benign | 0.3294 | benign | -0.504 | Destabilizing | 0.987 | D | 0.605 | neutral | None | None | None | None | N |
| K/I | 0.3035 | likely_benign | 0.3227 | benign | 0.56 | Stabilizing | 0.987 | D | 0.679 | prob.neutral | None | None | None | None | N |
| K/L | 0.3661 | ambiguous | 0.4042 | ambiguous | 0.56 | Stabilizing | 0.987 | D | 0.549 | neutral | None | None | None | None | N |
| K/M | 0.2495 | likely_benign | 0.252 | benign | 0.27 | Stabilizing | 0.999 | D | 0.591 | neutral | D | 0.606692965 | None | None | N |
| K/N | 0.4806 | ambiguous | 0.5017 | ambiguous | 0.232 | Stabilizing | 0.056 | N | 0.272 | neutral | D | 0.546606614 | None | None | N |
| K/P | 0.9196 | likely_pathogenic | 0.9189 | pathogenic | 0.403 | Stabilizing | 0.996 | D | 0.626 | neutral | None | None | None | None | N |
| K/Q | 0.1449 | likely_benign | 0.1503 | benign | 0.101 | Stabilizing | 0.967 | D | 0.553 | neutral | N | 0.51334847 | None | None | N |
| K/R | 0.1017 | likely_benign | 0.0989 | benign | -0.054 | Destabilizing | 0.025 | N | 0.293 | neutral | N | 0.510730396 | None | None | N |
| K/S | 0.38 | ambiguous | 0.4167 | ambiguous | -0.311 | Destabilizing | 0.845 | D | 0.519 | neutral | None | None | None | None | N |
| K/T | 0.1453 | likely_benign | 0.1642 | benign | -0.113 | Destabilizing | 0.892 | D | 0.554 | neutral | N | 0.50915551 | None | None | N |
| K/V | 0.2818 | likely_benign | 0.3136 | benign | 0.403 | Stabilizing | 0.987 | D | 0.644 | neutral | None | None | None | None | N |
| K/W | 0.8232 | likely_pathogenic | 0.827 | pathogenic | -0.069 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| K/Y | 0.6706 | likely_pathogenic | 0.6779 | pathogenic | 0.278 | Stabilizing | 0.996 | D | 0.653 | 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.