Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26667 | 80224;80225;80226 | chr2:178566133;178566132;178566131 | chr2:179430860;179430859;179430858 |
| N2AB | 25026 | 75301;75302;75303 | chr2:178566133;178566132;178566131 | chr2:179430860;179430859;179430858 |
| N2A | 24099 | 72520;72521;72522 | chr2:178566133;178566132;178566131 | chr2:179430860;179430859;179430858 |
| N2B | 17602 | 53029;53030;53031 | chr2:178566133;178566132;178566131 | chr2:179430860;179430859;179430858 |
| Novex-1 | 17727 | 53404;53405;53406 | chr2:178566133;178566132;178566131 | chr2:179430860;179430859;179430858 |
| Novex-2 | 17794 | 53605;53606;53607 | chr2:178566133;178566132;178566131 | chr2:179430860;179430859;179430858 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | None | None | 1.0 | D | 0.741 | 0.617 | 0.319402600006 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9924 | likely_pathogenic | 0.9936 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| N/C | 0.9507 | likely_pathogenic | 0.9583 | pathogenic | 0.141 | Stabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| N/D | 0.9845 | likely_pathogenic | 0.9859 | pathogenic | -1.075 | Destabilizing | 0.999 | D | 0.634 | neutral | D | 0.549790193 | None | None | N |
| N/E | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -1.082 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| N/F | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| N/G | 0.9797 | likely_pathogenic | 0.985 | pathogenic | -0.663 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | N |
| N/H | 0.9776 | likely_pathogenic | 0.9816 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.539536751 | None | None | N |
| N/I | 0.9904 | likely_pathogenic | 0.9917 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | D | 0.55131113 | None | None | N |
| N/K | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | 0.014 | Stabilizing | 1.0 | D | 0.741 | deleterious | D | 0.550550662 | None | None | N |
| N/L | 0.9879 | likely_pathogenic | 0.9897 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| N/M | 0.9907 | likely_pathogenic | 0.9924 | pathogenic | 0.641 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| N/P | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| N/Q | 0.9981 | likely_pathogenic | 0.9985 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| N/R | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | 0.196 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| N/S | 0.7917 | likely_pathogenic | 0.823 | pathogenic | -0.371 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.493805134 | None | None | N |
| N/T | 0.9412 | likely_pathogenic | 0.9479 | pathogenic | -0.249 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | D | 0.550043683 | None | None | N |
| N/V | 0.9875 | likely_pathogenic | 0.9892 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| N/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9868 | likely_pathogenic | 0.9888 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.551057641 | 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.