Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19231 | 57916;57917;57918 | chr2:178595663;178595662;178595661 | chr2:179460390;179460389;179460388 |
| N2AB | 17590 | 52993;52994;52995 | chr2:178595663;178595662;178595661 | chr2:179460390;179460389;179460388 |
| N2A | 16663 | 50212;50213;50214 | chr2:178595663;178595662;178595661 | chr2:179460390;179460389;179460388 |
| N2B | 10166 | 30721;30722;30723 | chr2:178595663;178595662;178595661 | chr2:179460390;179460389;179460388 |
| Novex-1 | 10291 | 31096;31097;31098 | chr2:178595663;178595662;178595661 | chr2:179460390;179460389;179460388 |
| Novex-2 | 10358 | 31297;31298;31299 | chr2:178595663;178595662;178595661 | chr2:179460390;179460389;179460388 |
| 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 | rs876658071  |
None | 1.0 | D | 0.693 | 0.485 | 0.754487893214 | gnomAD-4.0.0 | 6.86783E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01452E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.995 | likely_pathogenic | 0.997 | pathogenic | -3.189 | Highly Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| W/C | 0.9968 | likely_pathogenic | 0.9981 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.531909293 | None | None | N |
| W/D | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.078 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -2.02 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| W/F | 0.6379 | likely_pathogenic | 0.6451 | pathogenic | -2.02 | Highly Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| W/G | 0.9882 | likely_pathogenic | 0.9921 | pathogenic | -3.374 | Highly Destabilizing | 1.0 | D | 0.652 | neutral | N | 0.51304457 | None | None | N |
| W/H | 0.9941 | likely_pathogenic | 0.9957 | pathogenic | -1.66 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| W/I | 0.9945 | likely_pathogenic | 0.9967 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.59 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| W/L | 0.9803 | likely_pathogenic | 0.9879 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.652 | neutral | N | 0.511016654 | None | None | N |
| W/M | 0.9947 | likely_pathogenic | 0.997 | pathogenic | -1.872 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/N | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| W/P | 0.9977 | likely_pathogenic | 0.9985 | pathogenic | -2.75 | Highly Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.954 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/R | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.504397289 | None | None | N |
| W/S | 0.989 | likely_pathogenic | 0.9932 | pathogenic | -2.294 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.507675746 | None | None | N |
| W/T | 0.9969 | likely_pathogenic | 0.9981 | pathogenic | -2.188 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/V | 0.9913 | likely_pathogenic | 0.9947 | pathogenic | -2.75 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| W/Y | 0.8 | likely_pathogenic | 0.8041 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.609 | 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.