Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9227 | 27904;27905;27906 | chr2:178712151;178712150;178712149 | chr2:179576878;179576877;179576876 |
| N2AB | 8910 | 26953;26954;26955 | chr2:178712151;178712150;178712149 | chr2:179576878;179576877;179576876 |
| N2A | 7983 | 24172;24173;24174 | chr2:178712151;178712150;178712149 | chr2:179576878;179576877;179576876 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs1214925721  |
-1.168 | 0.998 | N | 0.499 | 0.377 | 0.156986980423 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/H | rs1214925721 |
-1.168 | 0.998 | N | 0.499 | 0.377 | 0.156986980423 | gnomAD-4.0.0 | 1.59123E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Q/P | rs1262905911 |
-0.129 | 0.998 | N | 0.576 | 0.476 | 0.530060385853 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/P | rs1262905911 |
-0.129 | 0.998 | N | 0.576 | 0.476 | 0.530060385853 | gnomAD-4.0.0 | 6.84199E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51915E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs1262905911 |
None | 0.068 | N | 0.291 | 0.153 | 0.18274738541 | gnomAD-4.0.0 | 1.23156E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61903E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4376 | ambiguous | 0.4724 | ambiguous | -0.774 | Destabilizing | 0.927 | D | 0.489 | neutral | None | None | None | None | N |
| Q/C | 0.766 | likely_pathogenic | 0.8161 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.624 | neutral | None | None | None | None | N |
| Q/D | 0.654 | likely_pathogenic | 0.713 | pathogenic | -1.011 | Destabilizing | 0.984 | D | 0.447 | neutral | None | None | None | None | N |
| Q/E | 0.0995 | likely_benign | 0.102 | benign | -0.857 | Destabilizing | 0.906 | D | 0.427 | neutral | N | 0.452595818 | None | None | N |
| Q/F | 0.7427 | likely_pathogenic | 0.7709 | pathogenic | -0.288 | Destabilizing | 0.991 | D | 0.635 | neutral | None | None | None | None | N |
| Q/G | 0.5885 | likely_pathogenic | 0.6507 | pathogenic | -1.182 | Destabilizing | 0.984 | D | 0.571 | neutral | None | None | None | None | N |
| Q/H | 0.2807 | likely_benign | 0.3384 | benign | -0.929 | Destabilizing | 0.998 | D | 0.499 | neutral | N | 0.505950301 | None | None | N |
| Q/I | 0.4141 | ambiguous | 0.4439 | ambiguous | 0.294 | Stabilizing | 0.982 | D | 0.618 | neutral | None | None | None | None | N |
| Q/K | 0.147 | likely_benign | 0.1637 | benign | -0.508 | Destabilizing | 0.238 | N | 0.175 | neutral | N | 0.410229121 | None | None | N |
| Q/L | 0.1737 | likely_benign | 0.1977 | benign | 0.294 | Stabilizing | 0.068 | N | 0.331 | neutral | N | 0.503064711 | None | None | N |
| Q/M | 0.4687 | ambiguous | 0.4619 | ambiguous | 0.69 | Stabilizing | 0.991 | D | 0.505 | neutral | None | None | None | None | N |
| Q/N | 0.509 | ambiguous | 0.5412 | ambiguous | -1.178 | Destabilizing | 0.984 | D | 0.458 | neutral | None | None | None | None | N |
| Q/P | 0.6424 | likely_pathogenic | 0.7619 | pathogenic | -0.031 | Destabilizing | 0.998 | D | 0.576 | neutral | N | 0.516802013 | None | None | N |
| Q/R | 0.1395 | likely_benign | 0.1823 | benign | -0.485 | Destabilizing | 0.068 | N | 0.291 | neutral | N | 0.451846457 | None | None | N |
| Q/S | 0.4444 | ambiguous | 0.4465 | ambiguous | -1.317 | Destabilizing | 0.969 | D | 0.431 | neutral | None | None | None | None | N |
| Q/T | 0.3229 | likely_benign | 0.3313 | benign | -0.963 | Destabilizing | 0.984 | D | 0.477 | neutral | None | None | None | None | N |
| Q/V | 0.3078 | likely_benign | 0.3323 | benign | -0.031 | Destabilizing | 0.939 | D | 0.555 | neutral | None | None | None | None | N |
| Q/W | 0.6596 | likely_pathogenic | 0.7709 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.61 | neutral | None | None | None | None | N |
| Q/Y | 0.5347 | ambiguous | 0.6032 | pathogenic | 0.064 | Stabilizing | 0.999 | D | 0.564 | 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.