Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3721 | 11386;11387;11388 | chr2:178756315;178756314;178756313 | chr2:179621042;179621041;179621040 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3550 | 10873;10874;10875 | chr2:178756315;178756314;178756313 | chr2:179621042;179621041;179621040 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs1216349904  |
None | None | None | None | 0.055 | None | gnomAD-4.0.0 | 6.842E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| N/S | rs2086919348 |
None | None | None | None | 0.091 | None | 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 | rs2086919348 |
None | None | None | None | 0.091 | None | gnomAD-4.0.0 | 2.02983E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40991E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.2843 | likely_benign | None | None | -0.486 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.3831 | ambiguous | None | None | 0.325 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.0717 | likely_benign | None | None | -0.492 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/E | 0.2567 | likely_benign | None | None | -0.498 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.6796 | likely_pathogenic | None | None | -0.707 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.2645 | likely_benign | None | None | -0.711 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.1067 | likely_benign | None | None | -0.748 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/I | 0.4876 | ambiguous | None | None | 0.036 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/K | 0.1953 | likely_benign | None | None | -0.059 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/L | 0.3845 | ambiguous | None | None | 0.036 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.4969 | ambiguous | None | None | 0.655 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.7196 | likely_pathogenic | None | None | -0.11 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.2744 | likely_benign | None | None | -0.7 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.2303 | likely_benign | None | None | 0.065 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.0944 | likely_benign | None | None | -0.394 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/T | 0.2297 | likely_benign | None | None | -0.252 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/V | 0.4662 | ambiguous | None | None | -0.11 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.8136 | likely_pathogenic | None | None | -0.598 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.2156 | likely_benign | None | None | -0.354 | Destabilizing | None | None | None | None | 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.