Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33088 | 99487;99488;99489 | chr2:178538567;178538566;178538565 | chr2:179403294;179403293;179403292 |
| N2AB | 31447 | 94564;94565;94566 | chr2:178538567;178538566;178538565 | chr2:179403294;179403293;179403292 |
| N2A | 30520 | 91783;91784;91785 | chr2:178538567;178538566;178538565 | chr2:179403294;179403293;179403292 |
| N2B | 24023 | 72292;72293;72294 | chr2:178538567;178538566;178538565 | chr2:179403294;179403293;179403292 |
| Novex-1 | 24148 | 72667;72668;72669 | chr2:178538567;178538566;178538565 | chr2:179403294;179403293;179403292 |
| Novex-2 | 24215 | 72868;72869;72870 | chr2:178538567;178538566;178538565 | chr2:179403294;179403293;179403292 |
| 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/G | rs745535102  |
-0.04 | 0.682 | N | 0.561 | 0.337 | 0.495640347216 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| A/G | rs745535102 |
-0.04 | 0.682 | N | 0.561 | 0.337 | 0.495640347216 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs745535102 |
-0.04 | 0.682 | N | 0.561 | 0.337 | 0.495640347216 | gnomAD-4.0.0 | 5.58015E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69579E-06 | 6.59558E-05 | 1.60195E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6126 | likely_pathogenic | 0.5154 | ambiguous | -0.967 | Destabilizing | 0.996 | D | 0.582 | neutral | None | None | None | None | I |
| A/D | 0.6459 | likely_pathogenic | 0.4724 | ambiguous | -0.662 | Destabilizing | 0.883 | D | 0.669 | prob.neutral | N | 0.50019219 | None | None | I |
| A/E | 0.5593 | ambiguous | 0.415 | ambiguous | -0.796 | Destabilizing | 0.74 | D | 0.719 | prob.delet. | None | None | None | None | I |
| A/F | 0.6128 | likely_pathogenic | 0.5178 | ambiguous | -1.031 | Destabilizing | 0.953 | D | 0.827 | deleterious | None | None | None | None | I |
| A/G | 0.2087 | likely_benign | 0.1595 | benign | -0.37 | Destabilizing | 0.682 | D | 0.561 | neutral | N | 0.500538907 | None | None | I |
| A/H | 0.7623 | likely_pathogenic | 0.6437 | pathogenic | -0.296 | Destabilizing | 0.996 | D | 0.784 | deleterious | None | None | None | None | I |
| A/I | 0.4194 | ambiguous | 0.3399 | benign | -0.576 | Destabilizing | 0.909 | D | 0.635 | neutral | None | None | None | None | I |
| A/K | 0.7985 | likely_pathogenic | 0.6731 | pathogenic | -0.66 | Destabilizing | 0.74 | D | 0.716 | prob.delet. | None | None | None | None | I |
| A/L | 0.3226 | likely_benign | 0.2382 | benign | -0.576 | Destabilizing | 0.587 | D | 0.603 | neutral | None | None | None | None | I |
| A/M | 0.3776 | ambiguous | 0.2985 | benign | -0.78 | Destabilizing | 0.987 | D | 0.637 | neutral | None | None | None | None | I |
| A/N | 0.4164 | ambiguous | 0.3009 | benign | -0.375 | Destabilizing | 0.909 | D | 0.789 | deleterious | None | None | None | None | I |
| A/P | 0.2019 | likely_benign | 0.1518 | benign | -0.491 | Destabilizing | 0.003 | N | 0.381 | neutral | N | 0.442184037 | None | None | I |
| A/Q | 0.5668 | likely_pathogenic | 0.4569 | ambiguous | -0.613 | Destabilizing | 0.953 | D | 0.684 | prob.delet. | None | None | None | None | I |
| A/R | 0.7374 | likely_pathogenic | 0.6383 | pathogenic | -0.253 | Destabilizing | 0.909 | D | 0.656 | prob.neutral | None | None | None | None | I |
| A/S | 0.1104 | likely_benign | 0.0918 | benign | -0.571 | Destabilizing | 0.518 | D | 0.607 | neutral | N | 0.40195078 | None | None | I |
| A/T | 0.128 | likely_benign | 0.0975 | benign | -0.639 | Destabilizing | 0.007 | N | 0.274 | neutral | N | 0.429561456 | None | None | I |
| A/V | 0.2064 | likely_benign | 0.1698 | benign | -0.491 | Destabilizing | 0.518 | D | 0.551 | neutral | N | 0.456478699 | None | None | I |
| A/W | 0.9298 | likely_pathogenic | 0.886 | pathogenic | -1.094 | Destabilizing | 0.996 | D | 0.807 | deleterious | None | None | None | None | I |
| A/Y | 0.7763 | likely_pathogenic | 0.6807 | pathogenic | -0.826 | Destabilizing | 0.984 | D | 0.814 | deleterious | None | None | None | None | I |
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.