Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1309 | 4150;4151;4152 | chr2:178779267;178779266;178779265 | chr2:179643994;179643993;179643992 |
| N2AB | 1309 | 4150;4151;4152 | chr2:178779267;178779266;178779265 | chr2:179643994;179643993;179643992 |
| N2A | 1309 | 4150;4151;4152 | chr2:178779267;178779266;178779265 | chr2:179643994;179643993;179643992 |
| N2B | 1263 | 4012;4013;4014 | chr2:178779267;178779266;178779265 | chr2:179643994;179643993;179643992 |
| Novex-1 | 1263 | 4012;4013;4014 | chr2:178779267;178779266;178779265 | chr2:179643994;179643993;179643992 |
| Novex-2 | 1263 | 4012;4013;4014 | chr2:178779267;178779266;178779265 | chr2:179643994;179643993;179643992 |
| Novex-3 | 1309 | 4150;4151;4152 | chr2:178779267;178779266;178779265 | chr2:179643994;179643993;179643992 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 1.0 | N | 0.784 | 0.494 | 0.430923071578 | gnomAD-4.0.0 | 1.3684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79884E-06 | 0 | 0 |
| T/N | rs878985727  |
None | 1.0 | N | 0.711 | 0.359 | 0.44750879378 | gnomAD-4.0.0 | 6.84202E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99418E-07 | 0 | 0 |
| T/P | None | None | 1.0 | D | 0.775 | 0.538 | 0.532503582573 | gnomAD-4.0.0 | 1.32047E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44388E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2127 | likely_benign | 0.2506 | benign | -0.953 | Destabilizing | 0.999 | D | 0.562 | neutral | N | 0.441200146 | None | None | N |
| T/C | 0.7503 | likely_pathogenic | 0.7813 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/D | 0.8495 | likely_pathogenic | 0.8842 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| T/E | 0.7888 | likely_pathogenic | 0.8265 | pathogenic | -0.209 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| T/F | 0.6817 | likely_pathogenic | 0.7498 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| T/G | 0.6916 | likely_pathogenic | 0.7531 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| T/H | 0.6412 | likely_pathogenic | 0.7122 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| T/I | 0.3522 | ambiguous | 0.3956 | ambiguous | -0.074 | Destabilizing | 1.0 | D | 0.784 | deleterious | N | 0.452453857 | None | None | N |
| T/K | 0.7406 | likely_pathogenic | 0.7717 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| T/L | 0.2713 | likely_benign | 0.3182 | benign | -0.074 | Destabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | N |
| T/M | 0.2144 | likely_benign | 0.2579 | benign | -0.062 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/N | 0.3787 | ambiguous | 0.4617 | ambiguous | -0.786 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.48583737 | None | None | N |
| T/P | 0.7729 | likely_pathogenic | 0.8143 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.622578238 | None | None | N |
| T/Q | 0.6276 | likely_pathogenic | 0.6889 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| T/R | 0.6501 | likely_pathogenic | 0.6934 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| T/S | 0.255 | likely_benign | 0.3088 | benign | -1.127 | Destabilizing | 0.999 | D | 0.543 | neutral | N | 0.455634828 | None | None | N |
| T/V | 0.26 | likely_benign | 0.2864 | benign | -0.335 | Destabilizing | 0.999 | D | 0.578 | neutral | None | None | None | None | N |
| T/W | 0.9266 | likely_pathogenic | 0.943 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| T/Y | 0.7133 | likely_pathogenic | 0.7726 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.787 | 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.