Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16127 | 48604;48605;48606 | chr2:178615722;178615721;178615720 | chr2:179480449;179480448;179480447 |
| N2AB | 14486 | 43681;43682;43683 | chr2:178615722;178615721;178615720 | chr2:179480449;179480448;179480447 |
| N2A | 13559 | 40900;40901;40902 | chr2:178615722;178615721;178615720 | chr2:179480449;179480448;179480447 |
| N2B | 7062 | 21409;21410;21411 | chr2:178615722;178615721;178615720 | chr2:179480449;179480448;179480447 |
| Novex-1 | 7187 | 21784;21785;21786 | chr2:178615722;178615721;178615720 | chr2:179480449;179480448;179480447 |
| Novex-2 | 7254 | 21985;21986;21987 | chr2:178615722;178615721;178615720 | chr2:179480449;179480448;179480447 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | None | None | 1.0 | D | 0.851 | 0.69 | 0.85228059225 | gnomAD-4.0.0 | 1.5945E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78087E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9975 | likely_pathogenic | 0.9982 | pathogenic | -1.834 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| F/C | 0.9822 | likely_pathogenic | 0.9892 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.78965428 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.988 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.781 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/G | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -2.209 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| F/H | 0.9967 | likely_pathogenic | 0.9972 | pathogenic | -1.952 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/I | 0.902 | likely_pathogenic | 0.9323 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.610246276 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.044 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| F/L | 0.9822 | likely_pathogenic | 0.9884 | pathogenic | -0.602 | Destabilizing | 0.999 | D | 0.692 | prob.neutral | D | 0.614968373 | None | None | N |
| F/M | 0.9678 | likely_pathogenic | 0.9772 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/N | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.761 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/Q | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.427 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| F/R | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -2.252 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| F/S | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -2.961 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.78965428 | None | None | N |
| F/T | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -2.639 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| F/V | 0.9154 | likely_pathogenic | 0.9437 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.601412584 | None | None | N |
| F/W | 0.9281 | likely_pathogenic | 0.9336 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| F/Y | 0.7745 | likely_pathogenic | 0.8165 | pathogenic | -0.805 | Destabilizing | 0.999 | D | 0.597 | neutral | D | 0.57094288 | 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.