Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20651 | 62176;62177;62178 | chr2:178589774;178589773;178589772 | chr2:179454501;179454500;179454499 |
| N2AB | 19010 | 57253;57254;57255 | chr2:178589774;178589773;178589772 | chr2:179454501;179454500;179454499 |
| N2A | 18083 | 54472;54473;54474 | chr2:178589774;178589773;178589772 | chr2:179454501;179454500;179454499 |
| N2B | 11586 | 34981;34982;34983 | chr2:178589774;178589773;178589772 | chr2:179454501;179454500;179454499 |
| Novex-1 | 11711 | 35356;35357;35358 | chr2:178589774;178589773;178589772 | chr2:179454501;179454500;179454499 |
| Novex-2 | 11778 | 35557;35558;35559 | chr2:178589774;178589773;178589772 | chr2:179454501;179454500;179454499 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1488229576  |
-0.704 | 1.0 | D | 0.906 | 0.621 | 0.674012052925 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9177 | likely_pathogenic | 0.9162 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.548804186 | None | None | N |
| G/C | 0.9857 | likely_pathogenic | 0.9862 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/D | 0.9973 | likely_pathogenic | 0.9975 | pathogenic | -1.701 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| G/E | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -1.799 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.548550697 | None | None | N |
| G/F | 0.9963 | likely_pathogenic | 0.9956 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/H | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/I | 0.9962 | likely_pathogenic | 0.996 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| G/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/L | 0.9955 | likely_pathogenic | 0.9952 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/M | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/N | 0.9971 | likely_pathogenic | 0.9978 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/P | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| G/Q | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/R | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.548297207 | None | None | N |
| G/S | 0.8883 | likely_pathogenic | 0.9276 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/T | 0.9882 | likely_pathogenic | 0.9919 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/V | 0.9937 | likely_pathogenic | 0.9938 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.549311165 | None | None | N |
| G/W | 0.9971 | likely_pathogenic | 0.9965 | pathogenic | -1.537 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.550071634 | None | None | N |
| G/Y | 0.9977 | likely_pathogenic | 0.9974 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.861 | 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.