Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27956 | 84091;84092;84093 | chr2:178562266;178562265;178562264 | chr2:179426993;179426992;179426991 |
| N2AB | 26315 | 79168;79169;79170 | chr2:178562266;178562265;178562264 | chr2:179426993;179426992;179426991 |
| N2A | 25388 | 76387;76388;76389 | chr2:178562266;178562265;178562264 | chr2:179426993;179426992;179426991 |
| N2B | 18891 | 56896;56897;56898 | chr2:178562266;178562265;178562264 | chr2:179426993;179426992;179426991 |
| Novex-1 | 19016 | 57271;57272;57273 | chr2:178562266;178562265;178562264 | chr2:179426993;179426992;179426991 |
| Novex-2 | 19083 | 57472;57473;57474 | chr2:178562266;178562265;178562264 | chr2:179426993;179426992;179426991 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 0.989 | D | 0.614 | 0.413 | 0.455816718377 | gnomAD-4.0.0 | 2.05323E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69877E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6907 | likely_pathogenic | 0.7073 | pathogenic | -1.672 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/D | 0.9962 | likely_pathogenic | 0.9977 | pathogenic | -2.563 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/E | 0.9882 | likely_pathogenic | 0.9924 | pathogenic | -2.414 | Highly Destabilizing | 1.0 | D | 0.733 | deleterious | N | 0.51856993 | None | None | N |
| A/F | 0.9518 | likely_pathogenic | 0.9665 | pathogenic | -0.941 | Destabilizing | 0.997 | D | 0.788 | deleterious | None | None | None | None | N |
| A/G | 0.5775 | likely_pathogenic | 0.6335 | pathogenic | -1.677 | Destabilizing | 0.797 | D | 0.566 | neutral | N | 0.51907691 | None | None | N |
| A/H | 0.9932 | likely_pathogenic | 0.9954 | pathogenic | -1.822 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/I | 0.6002 | likely_pathogenic | 0.6339 | pathogenic | -0.248 | Destabilizing | 0.992 | D | 0.685 | prob.delet. | None | None | None | None | N |
| A/K | 0.9949 | likely_pathogenic | 0.9966 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.724 | deleterious | None | None | None | None | N |
| A/L | 0.6479 | likely_pathogenic | 0.7015 | pathogenic | -0.248 | Destabilizing | 0.98 | D | 0.601 | neutral | None | None | None | None | N |
| A/M | 0.8099 | likely_pathogenic | 0.8556 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/N | 0.9774 | likely_pathogenic | 0.984 | pathogenic | -1.565 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/P | 0.7078 | likely_pathogenic | 0.7643 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.480969069 | None | None | N |
| A/Q | 0.9747 | likely_pathogenic | 0.9812 | pathogenic | -1.49 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/R | 0.9806 | likely_pathogenic | 0.986 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| A/S | 0.3351 | likely_benign | 0.3673 | ambiguous | -1.954 | Destabilizing | 0.989 | D | 0.614 | neutral | D | 0.529419257 | None | None | N |
| A/T | 0.4373 | ambiguous | 0.4889 | ambiguous | -1.694 | Destabilizing | 0.998 | D | 0.622 | neutral | N | 0.492614862 | None | None | N |
| A/V | 0.354 | ambiguous | 0.3909 | ambiguous | -0.553 | Destabilizing | 0.183 | N | 0.31 | neutral | N | 0.489281763 | None | None | N |
| A/W | 0.9962 | likely_pathogenic | 0.9972 | pathogenic | -1.528 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/Y | 0.9881 | likely_pathogenic | 0.992 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.783 | deleterious | 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.