Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5374 | 16345;16346;16347 | chr2:178733056;178733055;178733054 | chr2:179597783;179597782;179597781 |
| N2AB | 5057 | 15394;15395;15396 | chr2:178733056;178733055;178733054 | chr2:179597783;179597782;179597781 |
| N2A | 4130 | 12613;12614;12615 | chr2:178733056;178733055;178733054 | chr2:179597783;179597782;179597781 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs2080832566  |
None | 0.863 | N | 0.746 | 0.291 | 0.687224575613 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/Y | rs375577529 |
-1.214 | 0.975 | N | 0.731 | 0.28 | None | gnomAD-2.1.1 | 8.61E-05 | None | None | None | None | N | None | 0 | 1.13695E-04 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 1.49015E-04 | 0 |
| C/Y | rs375577529 |
-1.214 | 0.975 | N | 0.731 | 0.28 | None | gnomAD-3.1.2 | 9.86E-05 | None | None | None | None | N | None | 2.41E-05 | 1.3101E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.61717E-04 | 0 | 4.78469E-04 |
| C/Y | rs375577529 |
-1.214 | 0.975 | N | 0.731 | 0.28 | None | gnomAD-4.0.0 | 1.19064E-04 | None | None | None | None | N | None | 1.33508E-05 | 1.00174E-04 | None | 0 | 0 | None | 0 | 0 | 1.50098E-04 | 1.09972E-05 | 1.12158E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.3141 | likely_benign | 0.3318 | benign | -1.162 | Destabilizing | 0.013 | N | 0.165 | neutral | None | None | None | None | N |
| C/D | 0.8819 | likely_pathogenic | 0.8896 | pathogenic | 0.588 | Stabilizing | 0.704 | D | 0.715 | prob.delet. | None | None | None | None | N |
| C/E | 0.9051 | likely_pathogenic | 0.9155 | pathogenic | 0.665 | Stabilizing | 0.704 | D | 0.706 | prob.neutral | None | None | None | None | N |
| C/F | 0.2776 | likely_benign | 0.2894 | benign | -0.661 | Destabilizing | 0.927 | D | 0.734 | prob.delet. | N | 0.415956575 | None | None | N |
| C/G | 0.2178 | likely_benign | 0.2137 | benign | -1.438 | Destabilizing | 0.425 | N | 0.629 | neutral | N | 0.414937854 | None | None | N |
| C/H | 0.6768 | likely_pathogenic | 0.6952 | pathogenic | -1.411 | Destabilizing | 0.995 | D | 0.711 | prob.delet. | None | None | None | None | N |
| C/I | 0.3802 | ambiguous | 0.4155 | ambiguous | -0.48 | Destabilizing | 0.013 | N | 0.441 | neutral | None | None | None | None | N |
| C/K | 0.9157 | likely_pathogenic | 0.9264 | pathogenic | -0.192 | Destabilizing | 0.704 | D | 0.686 | prob.neutral | None | None | None | None | N |
| C/L | 0.446 | ambiguous | 0.484 | ambiguous | -0.48 | Destabilizing | 0.176 | N | 0.458 | neutral | None | None | None | None | N |
| C/M | 0.6431 | likely_pathogenic | 0.6679 | pathogenic | 0.072 | Stabilizing | 0.944 | D | 0.715 | prob.delet. | None | None | None | None | N |
| C/N | 0.7105 | likely_pathogenic | 0.7283 | pathogenic | -0.16 | Destabilizing | 0.893 | D | 0.745 | deleterious | None | None | None | None | N |
| C/P | 0.9462 | likely_pathogenic | 0.9524 | pathogenic | -0.68 | Destabilizing | 0.828 | D | 0.746 | deleterious | None | None | None | None | N |
| C/Q | 0.7551 | likely_pathogenic | 0.778 | pathogenic | -0.061 | Destabilizing | 0.944 | D | 0.736 | prob.delet. | None | None | None | None | N |
| C/R | 0.6683 | likely_pathogenic | 0.6935 | pathogenic | -0.156 | Destabilizing | 0.863 | D | 0.746 | deleterious | N | 0.487664744 | None | None | N |
| C/S | 0.2668 | likely_benign | 0.2731 | benign | -0.733 | Destabilizing | 0.27 | N | 0.541 | neutral | N | 0.439276152 | None | None | N |
| C/T | 0.3913 | ambiguous | 0.4107 | ambiguous | -0.465 | Destabilizing | 0.013 | N | 0.441 | neutral | None | None | None | None | N |
| C/V | 0.3035 | likely_benign | 0.3308 | benign | -0.68 | Destabilizing | 0.004 | N | 0.404 | neutral | None | None | None | None | N |
| C/W | 0.6284 | likely_pathogenic | 0.6635 | pathogenic | -0.634 | Destabilizing | 0.993 | D | 0.671 | neutral | N | 0.488011461 | None | None | N |
| C/Y | 0.4128 | ambiguous | 0.4291 | ambiguous | -0.56 | Destabilizing | 0.975 | D | 0.731 | prob.delet. | N | 0.45830463 | 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.