Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4766 | 14521;14522;14523 | chr2:178738157;178738156;178738155 | chr2:179602884;179602883;179602882 |
| N2AB | 4449 | 13570;13571;13572 | chr2:178738157;178738156;178738155 | chr2:179602884;179602883;179602882 |
| N2A | 3522 | 10789;10790;10791 | chr2:178738157;178738156;178738155 | chr2:179602884;179602883;179602882 |
| N2B | 4403 | 13432;13433;13434 | chr2:178738157;178738156;178738155 | chr2:179602884;179602883;179602882 |
| Novex-1 | 4528 | 13807;13808;13809 | chr2:178738157;178738156;178738155 | chr2:179602884;179602883;179602882 |
| Novex-2 | 4595 | 14008;14009;14010 | chr2:178738157;178738156;178738155 | chr2:179602884;179602883;179602882 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs878898536  |
-0.984 | 0.998 | D | 0.761 | 0.912 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| D/G | rs878898536 |
-0.984 | 0.998 | D | 0.761 | 0.912 | None | gnomAD-4.0.0 | 1.36846E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79896E-05 | 0 | 0 |
| D/N | rs981499527 |
-0.947 | 0.999 | D | 0.78 | 0.745 | 0.613049571989 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 1.15989E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs981499527 |
-0.947 | 0.999 | D | 0.78 | 0.745 | 0.613049571989 | gnomAD-4.0.0 | 3.42114E-06 | None | None | None | None | N | None | 0 | 8.94494E-05 | None | 0 | 0 | None | 0 | 0 | 8.99476E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9883 | likely_pathogenic | 0.9826 | pathogenic | 0.017 | Stabilizing | 0.999 | D | 0.816 | deleterious | D | 0.823448059 | None | None | N |
| D/C | 0.9976 | likely_pathogenic | 0.9965 | pathogenic | 0.018 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/E | 0.9671 | likely_pathogenic | 0.9544 | pathogenic | -0.724 | Destabilizing | 0.767 | D | 0.348 | neutral | D | 0.73480724 | None | None | N |
| D/F | 0.9972 | likely_pathogenic | 0.9959 | pathogenic | 0.706 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| D/G | 0.9895 | likely_pathogenic | 0.9858 | pathogenic | -0.435 | Destabilizing | 0.998 | D | 0.761 | deleterious | D | 0.822652736 | None | None | N |
| D/H | 0.9831 | likely_pathogenic | 0.9803 | pathogenic | 0.284 | Stabilizing | 1.0 | D | 0.813 | deleterious | D | 0.652340669 | None | None | N |
| D/I | 0.9983 | likely_pathogenic | 0.9966 | pathogenic | 1.233 | Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| D/K | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -0.262 | Destabilizing | 0.999 | D | 0.796 | deleterious | None | None | None | None | N |
| D/L | 0.9956 | likely_pathogenic | 0.9934 | pathogenic | 1.233 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| D/M | 0.9989 | likely_pathogenic | 0.9983 | pathogenic | 1.661 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/N | 0.9429 | likely_pathogenic | 0.9259 | pathogenic | -0.959 | Destabilizing | 0.999 | D | 0.78 | deleterious | D | 0.735231571 | None | None | N |
| D/P | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | 0.857 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/Q | 0.9936 | likely_pathogenic | 0.9909 | pathogenic | -0.657 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| D/R | 0.9979 | likely_pathogenic | 0.9967 | pathogenic | -0.145 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| D/S | 0.9679 | likely_pathogenic | 0.954 | pathogenic | -1.243 | Destabilizing | 0.997 | D | 0.689 | prob.neutral | None | None | None | None | N |
| D/T | 0.9961 | likely_pathogenic | 0.9933 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/V | 0.9947 | likely_pathogenic | 0.9896 | pathogenic | 0.857 | Stabilizing | 0.999 | D | 0.877 | deleterious | D | 0.822612177 | None | None | N |
| D/W | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | 0.788 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/Y | 0.9847 | likely_pathogenic | 0.9749 | pathogenic | 0.944 | Stabilizing | 1.0 | D | 0.877 | deleterious | D | 0.76896274 | 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.