Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18494 | 55705;55706;55707 | chr2:178601517;178601516;178601515 | chr2:179466244;179466243;179466242 |
| N2AB | 16853 | 50782;50783;50784 | chr2:178601517;178601516;178601515 | chr2:179466244;179466243;179466242 |
| N2A | 15926 | 48001;48002;48003 | chr2:178601517;178601516;178601515 | chr2:179466244;179466243;179466242 |
| N2B | 9429 | 28510;28511;28512 | chr2:178601517;178601516;178601515 | chr2:179466244;179466243;179466242 |
| Novex-1 | 9554 | 28885;28886;28887 | chr2:178601517;178601516;178601515 | chr2:179466244;179466243;179466242 |
| Novex-2 | 9621 | 29086;29087;29088 | chr2:178601517;178601516;178601515 | chr2:179466244;179466243;179466242 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs368523054  |
-0.988 | None | N | 0.073 | 0.099 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| G/S | rs368523054 |
-0.988 | None | N | 0.073 | 0.099 | None | 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 |
| G/S | rs368523054 |
-0.988 | None | N | 0.073 | 0.099 | None | gnomAD-4.0.0 | 5.13056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.58506E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.156 | likely_benign | 0.122 | benign | -0.738 | Destabilizing | None | N | 0.092 | neutral | N | 0.455315545 | None | None | N |
| G/C | 0.2146 | likely_benign | 0.1849 | benign | -1.415 | Destabilizing | None | N | 0.446 | neutral | N | 0.51419049 | None | None | N |
| G/D | 0.4111 | ambiguous | 0.3528 | ambiguous | -2.096 | Highly Destabilizing | 0.029 | N | 0.517 | neutral | N | 0.383105943 | None | None | N |
| G/E | 0.3941 | ambiguous | 0.3214 | benign | -2.172 | Highly Destabilizing | 0.038 | N | 0.523 | neutral | None | None | None | None | N |
| G/F | 0.6149 | likely_pathogenic | 0.5554 | ambiguous | -1.413 | Destabilizing | 0.356 | N | 0.599 | neutral | None | None | None | None | N |
| G/H | 0.4901 | ambiguous | 0.4145 | ambiguous | -1.018 | Destabilizing | 0.356 | N | 0.519 | neutral | None | None | None | None | N |
| G/I | 0.4187 | ambiguous | 0.3562 | ambiguous | -0.588 | Destabilizing | 0.214 | N | 0.606 | neutral | None | None | None | None | N |
| G/K | 0.6187 | likely_pathogenic | 0.5644 | pathogenic | -1.174 | Destabilizing | 0.038 | N | 0.523 | neutral | None | None | None | None | N |
| G/L | 0.5034 | ambiguous | 0.4357 | ambiguous | -0.588 | Destabilizing | 0.038 | N | 0.527 | neutral | None | None | None | None | N |
| G/M | 0.4826 | ambiguous | 0.4193 | ambiguous | -0.519 | Destabilizing | 0.628 | D | 0.565 | neutral | None | None | None | None | N |
| G/N | 0.2759 | likely_benign | 0.2105 | benign | -1.135 | Destabilizing | 0.038 | N | 0.463 | neutral | None | None | None | None | N |
| G/P | 0.9656 | likely_pathogenic | 0.9581 | pathogenic | -0.605 | Destabilizing | 0.214 | N | 0.569 | neutral | None | None | None | None | N |
| G/Q | 0.4269 | ambiguous | 0.3555 | ambiguous | -1.458 | Destabilizing | 0.214 | N | 0.549 | neutral | None | None | None | None | N |
| G/R | 0.5242 | ambiguous | 0.4685 | ambiguous | -0.751 | Destabilizing | 0.171 | N | 0.564 | neutral | N | 0.43388148 | None | None | N |
| G/S | 0.1091 | likely_benign | 0.0838 | benign | -1.264 | Destabilizing | None | N | 0.073 | neutral | N | 0.397688606 | None | None | N |
| G/T | 0.1587 | likely_benign | 0.1189 | benign | -1.287 | Destabilizing | 0.001 | N | 0.299 | neutral | None | None | None | None | N |
| G/V | 0.3037 | likely_benign | 0.2551 | benign | -0.605 | Destabilizing | 0.055 | N | 0.529 | neutral | D | 0.524444769 | None | None | N |
| G/W | 0.5596 | ambiguous | 0.4996 | ambiguous | -1.654 | Destabilizing | 0.864 | D | 0.518 | neutral | None | None | None | None | N |
| G/Y | 0.4885 | ambiguous | 0.4191 | ambiguous | -1.246 | Destabilizing | 0.356 | N | 0.601 | 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.