Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17811 | 53656;53657;53658 | chr2:178607171;178607170;178607169 | chr2:179471898;179471897;179471896 |
| N2AB | 16170 | 48733;48734;48735 | chr2:178607171;178607170;178607169 | chr2:179471898;179471897;179471896 |
| N2A | 15243 | 45952;45953;45954 | chr2:178607171;178607170;178607169 | chr2:179471898;179471897;179471896 |
| N2B | 8746 | 26461;26462;26463 | chr2:178607171;178607170;178607169 | chr2:179471898;179471897;179471896 |
| Novex-1 | 8871 | 26836;26837;26838 | chr2:178607171;178607170;178607169 | chr2:179471898;179471897;179471896 |
| Novex-2 | 8938 | 27037;27038;27039 | chr2:178607171;178607170;178607169 | chr2:179471898;179471897;179471896 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1306991684  |
-1.041 | 1.0 | N | 0.699 | 0.375 | 0.741748209757 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/C | rs1306991684 |
-1.041 | 1.0 | N | 0.699 | 0.375 | 0.741748209757 | gnomAD-4.0.0 | 3.18567E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86169E-06 | 1.4334E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9964 | likely_pathogenic | 0.9954 | pathogenic | -3.091 | Highly Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| W/C | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.515615464 | None | None | N |
| W/D | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -1.934 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.864 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/F | 0.6143 | likely_pathogenic | 0.6438 | pathogenic | -1.91 | Destabilizing | 0.269 | N | 0.277 | neutral | None | None | None | None | N |
| W/G | 0.9916 | likely_pathogenic | 0.9861 | pathogenic | -3.283 | Highly Destabilizing | 0.999 | D | 0.602 | neutral | N | 0.514348016 | None | None | N |
| W/H | 0.9951 | likely_pathogenic | 0.9945 | pathogenic | -1.573 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| W/I | 0.9937 | likely_pathogenic | 0.993 | pathogenic | -2.385 | Highly Destabilizing | 0.998 | D | 0.748 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.686 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/L | 0.9831 | likely_pathogenic | 0.9787 | pathogenic | -2.385 | Highly Destabilizing | 0.978 | D | 0.543 | neutral | N | 0.513334058 | None | None | N |
| W/M | 0.9955 | likely_pathogenic | 0.9948 | pathogenic | -1.782 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| W/N | 0.9985 | likely_pathogenic | 0.9977 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/P | 0.9962 | likely_pathogenic | 0.9958 | pathogenic | -2.638 | Highly Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| W/R | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.05 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | N | 0.508107046 | None | None | N |
| W/S | 0.9936 | likely_pathogenic | 0.9896 | pathogenic | -2.441 | Highly Destabilizing | 0.999 | D | 0.748 | deleterious | N | 0.502484732 | None | None | N |
| W/T | 0.9969 | likely_pathogenic | 0.9962 | pathogenic | -2.327 | Highly Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| W/V | 0.9926 | likely_pathogenic | 0.9908 | pathogenic | -2.638 | Highly Destabilizing | 0.998 | D | 0.745 | deleterious | None | None | None | None | N |
| W/Y | 0.7661 | likely_pathogenic | 0.7799 | pathogenic | -1.711 | Destabilizing | 0.983 | D | 0.471 | neutral | 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.