Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15456 | 46591;46592;46593 | chr2:178620051;178620050;178620049 | chr2:179484778;179484777;179484776 |
| N2AB | 13815 | 41668;41669;41670 | chr2:178620051;178620050;178620049 | chr2:179484778;179484777;179484776 |
| N2A | 12888 | 38887;38888;38889 | chr2:178620051;178620050;178620049 | chr2:179484778;179484777;179484776 |
| N2B | 6391 | 19396;19397;19398 | chr2:178620051;178620050;178620049 | chr2:179484778;179484777;179484776 |
| Novex-1 | 6516 | 19771;19772;19773 | chr2:178620051;178620050;178620049 | chr2:179484778;179484777;179484776 |
| Novex-2 | 6583 | 19972;19973;19974 | chr2:178620051;178620050;178620049 | chr2:179484778;179484777;179484776 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | None | None | 1.0 | D | 0.771 | 0.757 | 0.773741610481 | gnomAD-4.0.0 | 1.59515E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86517E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9906 | likely_pathogenic | 0.9932 | pathogenic | 0.035 | Stabilizing | 1.0 | D | 0.803 | deleterious | D | 0.778769001 | None | None | N |
| D/C | 0.9975 | likely_pathogenic | 0.9984 | pathogenic | -0.038 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| D/E | 0.9401 | likely_pathogenic | 0.9657 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.552 | neutral | D | 0.779907158 | None | None | N |
| D/F | 0.9981 | likely_pathogenic | 0.9988 | pathogenic | 0.552 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| D/G | 0.9911 | likely_pathogenic | 0.9938 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.77800749 | None | None | N |
| D/H | 0.9886 | likely_pathogenic | 0.9923 | pathogenic | 0.012 | Stabilizing | 1.0 | D | 0.811 | deleterious | D | 0.742349246 | None | None | N |
| D/I | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | 1.224 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| D/K | 0.9964 | likely_pathogenic | 0.9973 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/L | 0.9965 | likely_pathogenic | 0.9974 | pathogenic | 1.224 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| D/M | 0.9978 | likely_pathogenic | 0.9987 | pathogenic | 1.673 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| D/N | 0.9306 | likely_pathogenic | 0.951 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.7803547 | None | None | N |
| D/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | 0.857 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/Q | 0.9921 | likely_pathogenic | 0.9952 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| D/R | 0.9967 | likely_pathogenic | 0.9978 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/S | 0.9753 | likely_pathogenic | 0.9832 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| D/T | 0.9943 | likely_pathogenic | 0.9966 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/V | 0.9946 | likely_pathogenic | 0.9957 | pathogenic | 0.857 | Stabilizing | 1.0 | D | 0.811 | deleterious | D | 0.777984809 | None | None | N |
| D/W | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | 0.538 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| D/Y | 0.9886 | likely_pathogenic | 0.9917 | pathogenic | 0.739 | Stabilizing | 1.0 | D | 0.817 | deleterious | D | 0.742349246 | 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.