Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15472 | 46639;46640;46641 | chr2:178620003;178620002;178620001 | chr2:179484730;179484729;179484728 |
| N2AB | 13831 | 41716;41717;41718 | chr2:178620003;178620002;178620001 | chr2:179484730;179484729;179484728 |
| N2A | 12904 | 38935;38936;38937 | chr2:178620003;178620002;178620001 | chr2:179484730;179484729;179484728 |
| N2B | 6407 | 19444;19445;19446 | chr2:178620003;178620002;178620001 | chr2:179484730;179484729;179484728 |
| Novex-1 | 6532 | 19819;19820;19821 | chr2:178620003;178620002;178620001 | chr2:179484730;179484729;179484728 |
| Novex-2 | 6599 | 20020;20021;20022 | chr2:178620003;178620002;178620001 | chr2:179484730;179484729;179484728 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/I | None | None | 1.0 | D | 0.751 | 0.589 | 0.762598717835 | gnomAD-4.0.0 | 6.85722E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00476E-07 | 0 | 0 |
| R/T | rs2058028450  |
None | 1.0 | D | 0.75 | 0.567 | 0.604945591675 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | rs2058028450 |
None | 1.0 | D | 0.75 | 0.567 | 0.604945591675 | gnomAD-4.0.0 | 5.58954E-06 | None | None | None | None | N | None | 6.69416E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.42137E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9124 | likely_pathogenic | 0.933 | pathogenic | -0.949 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| R/C | 0.66 | likely_pathogenic | 0.736 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| R/D | 0.9688 | likely_pathogenic | 0.9749 | pathogenic | -0.086 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| R/E | 0.8516 | likely_pathogenic | 0.8784 | pathogenic | 0.083 | Stabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | N |
| R/F | 0.9103 | likely_pathogenic | 0.9458 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| R/G | 0.9024 | likely_pathogenic | 0.9284 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | D | 0.637378995 | None | None | N |
| R/H | 0.3125 | likely_benign | 0.3798 | ambiguous | -1.514 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| R/I | 0.7627 | likely_pathogenic | 0.8372 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.751 | deleterious | D | 0.54819306 | None | None | N |
| R/K | 0.2572 | likely_benign | 0.3237 | benign | -0.851 | Destabilizing | 0.997 | D | 0.563 | neutral | N | 0.491783831 | None | None | N |
| R/L | 0.6663 | likely_pathogenic | 0.75 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| R/M | 0.7992 | likely_pathogenic | 0.8583 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/N | 0.916 | likely_pathogenic | 0.9365 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/P | 0.9796 | likely_pathogenic | 0.9882 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| R/Q | 0.3506 | ambiguous | 0.4127 | ambiguous | -0.518 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| R/S | 0.9267 | likely_pathogenic | 0.9432 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.522086719 | None | None | N |
| R/T | 0.8121 | likely_pathogenic | 0.8664 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.540088776 | None | None | N |
| R/V | 0.7932 | likely_pathogenic | 0.8504 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/W | 0.604 | likely_pathogenic | 0.7137 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| R/Y | 0.8343 | likely_pathogenic | 0.8935 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.757 | 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.