Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1873 | 5842;5843;5844 | chr2:178776247;178776246;178776245 | chr2:179640974;179640973;179640972 |
| N2AB | 1873 | 5842;5843;5844 | chr2:178776247;178776246;178776245 | chr2:179640974;179640973;179640972 |
| N2A | 1873 | 5842;5843;5844 | chr2:178776247;178776246;178776245 | chr2:179640974;179640973;179640972 |
| N2B | 1827 | 5704;5705;5706 | chr2:178776247;178776246;178776245 | chr2:179640974;179640973;179640972 |
| Novex-1 | 1827 | 5704;5705;5706 | chr2:178776247;178776246;178776245 | chr2:179640974;179640973;179640972 |
| Novex-2 | 1827 | 5704;5705;5706 | chr2:178776247;178776246;178776245 | chr2:179640974;179640973;179640972 |
| Novex-3 | 1873 | 5842;5843;5844 | chr2:178776247;178776246;178776245 | chr2:179640974;179640973;179640972 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs762273184  |
-0.549 | 0.905 | N | 0.381 | 0.22 | 0.141422826196 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| N/S | rs762273184 |
-0.549 | 0.905 | N | 0.381 | 0.22 | 0.141422826196 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs762273184 |
-0.549 | 0.905 | N | 0.381 | 0.22 | 0.141422826196 | gnomAD-4.0.0 | 6.5684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46968E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.4539 | ambiguous | 0.4253 | ambiguous | -0.974 | Destabilizing | 0.994 | D | 0.601 | neutral | None | None | None | None | N |
| N/C | 0.5596 | ambiguous | 0.5262 | ambiguous | -0.067 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| N/D | 0.5268 | ambiguous | 0.5386 | ambiguous | -0.832 | Destabilizing | 0.996 | D | 0.504 | neutral | N | 0.473417639 | None | None | N |
| N/E | 0.8012 | likely_pathogenic | 0.8107 | pathogenic | -0.642 | Destabilizing | 0.997 | D | 0.575 | neutral | None | None | None | None | N |
| N/F | 0.7349 | likely_pathogenic | 0.7451 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| N/G | 0.595 | likely_pathogenic | 0.5621 | ambiguous | -1.387 | Destabilizing | 0.997 | D | 0.524 | neutral | None | None | None | None | N |
| N/H | 0.1881 | likely_benign | 0.1946 | benign | -0.919 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.466977098 | None | None | N |
| N/I | 0.4076 | ambiguous | 0.3873 | ambiguous | 0.122 | Stabilizing | 0.999 | D | 0.74 | deleterious | N | 0.451678915 | None | None | N |
| N/K | 0.7688 | likely_pathogenic | 0.7599 | pathogenic | -0.28 | Destabilizing | 0.996 | D | 0.574 | neutral | N | 0.39928121 | None | None | N |
| N/L | 0.4294 | ambiguous | 0.4232 | ambiguous | 0.122 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| N/M | 0.5282 | ambiguous | 0.5238 | ambiguous | 0.409 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| N/P | 0.9859 | likely_pathogenic | 0.9869 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| N/Q | 0.5904 | likely_pathogenic | 0.5888 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| N/R | 0.7623 | likely_pathogenic | 0.763 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| N/S | 0.1149 | likely_benign | 0.1085 | benign | -1.093 | Destabilizing | 0.905 | D | 0.381 | neutral | N | 0.425558719 | None | None | N |
| N/T | 0.2241 | likely_benign | 0.2252 | benign | -0.697 | Destabilizing | 0.992 | D | 0.529 | neutral | N | 0.397851736 | None | None | N |
| N/V | 0.4214 | ambiguous | 0.4197 | ambiguous | -0.214 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| N/W | 0.9297 | likely_pathogenic | 0.9381 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| N/Y | 0.3659 | ambiguous | 0.3607 | ambiguous | 0.034 | Stabilizing | 1.0 | D | 0.745 | deleterious | N | 0.473402399 | 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.