Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17529 | 52810;52811;52812 | chr2:178608298;178608297;178608296 | chr2:179473025;179473024;179473023 |
| N2AB | 15888 | 47887;47888;47889 | chr2:178608298;178608297;178608296 | chr2:179473025;179473024;179473023 |
| N2A | 14961 | 45106;45107;45108 | chr2:178608298;178608297;178608296 | chr2:179473025;179473024;179473023 |
| N2B | 8464 | 25615;25616;25617 | chr2:178608298;178608297;178608296 | chr2:179473025;179473024;179473023 |
| Novex-1 | 8589 | 25990;25991;25992 | chr2:178608298;178608297;178608296 | chr2:179473025;179473024;179473023 |
| Novex-2 | 8656 | 26191;26192;26193 | chr2:178608298;178608297;178608296 | chr2:179473025;179473024;179473023 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1379034586  |
-1.234 | None | N | 0.111 | 0.054 | 0.12205267543 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| A/T | rs1379034586 |
-1.234 | None | N | 0.111 | 0.054 | 0.12205267543 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1379034586 |
-1.234 | None | N | 0.111 | 0.054 | 0.12205267543 | gnomAD-4.0.0 | 3.72166E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08847E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.263 | likely_benign | 0.252 | benign | -0.763 | Destabilizing | 0.245 | N | 0.544 | neutral | None | None | None | None | N |
| A/D | 0.3866 | ambiguous | 0.3835 | ambiguous | -0.734 | Destabilizing | 0.033 | N | 0.641 | neutral | N | 0.480918346 | None | None | N |
| A/E | 0.2383 | likely_benign | 0.2503 | benign | -0.651 | Destabilizing | 0.044 | N | 0.585 | neutral | None | None | None | None | N |
| A/F | 0.2089 | likely_benign | 0.2258 | benign | -0.497 | Destabilizing | 0.044 | N | 0.641 | neutral | None | None | None | None | N |
| A/G | 0.1572 | likely_benign | 0.1572 | benign | -1.005 | Destabilizing | 0.014 | N | 0.367 | neutral | N | 0.509190102 | None | None | N |
| A/H | 0.3749 | ambiguous | 0.3794 | ambiguous | -1.119 | Destabilizing | 0.497 | N | 0.637 | neutral | None | None | None | None | N |
| A/I | 0.1287 | likely_benign | 0.1529 | benign | 0.245 | Stabilizing | None | N | 0.356 | neutral | None | None | None | None | N |
| A/K | 0.3808 | ambiguous | 0.3958 | ambiguous | -0.924 | Destabilizing | 0.018 | N | 0.557 | neutral | None | None | None | None | N |
| A/L | 0.1145 | likely_benign | 0.122 | benign | 0.245 | Stabilizing | None | N | 0.318 | neutral | None | None | None | None | N |
| A/M | 0.1164 | likely_benign | 0.1252 | benign | 0.029 | Stabilizing | 0.001 | N | 0.419 | neutral | None | None | None | None | N |
| A/N | 0.2604 | likely_benign | 0.2686 | benign | -0.924 | Destabilizing | 0.044 | N | 0.651 | neutral | None | None | None | None | N |
| A/P | 0.8152 | likely_pathogenic | 0.8299 | pathogenic | -0.005 | Destabilizing | 0.065 | N | 0.632 | neutral | N | 0.480918346 | None | None | N |
| A/Q | 0.2889 | likely_benign | 0.2948 | benign | -0.851 | Destabilizing | 0.044 | N | 0.681 | prob.neutral | None | None | None | None | N |
| A/R | 0.3889 | ambiguous | 0.3877 | ambiguous | -0.85 | Destabilizing | 0.044 | N | 0.642 | neutral | None | None | None | None | N |
| A/S | 0.1125 | likely_benign | 0.1152 | benign | -1.396 | Destabilizing | 0.007 | N | 0.353 | neutral | N | 0.469055061 | None | None | N |
| A/T | 0.0732 | likely_benign | 0.075 | benign | -1.175 | Destabilizing | None | N | 0.111 | neutral | N | 0.474653454 | None | None | N |
| A/V | 0.0791 | likely_benign | 0.086 | benign | -0.005 | Destabilizing | None | N | 0.109 | neutral | N | 0.408809677 | None | None | N |
| A/W | 0.5753 | likely_pathogenic | 0.5561 | ambiguous | -0.996 | Destabilizing | 0.788 | D | 0.659 | neutral | None | None | None | None | N |
| A/Y | 0.2918 | likely_benign | 0.2931 | benign | -0.466 | Destabilizing | 0.085 | N | 0.689 | prob.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.