Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1901 | 5926;5927;5928 | chr2:178776163;178776162;178776161 | chr2:179640890;179640889;179640888 |
| N2AB | 1901 | 5926;5927;5928 | chr2:178776163;178776162;178776161 | chr2:179640890;179640889;179640888 |
| N2A | 1901 | 5926;5927;5928 | chr2:178776163;178776162;178776161 | chr2:179640890;179640889;179640888 |
| N2B | 1855 | 5788;5789;5790 | chr2:178776163;178776162;178776161 | chr2:179640890;179640889;179640888 |
| Novex-1 | 1855 | 5788;5789;5790 | chr2:178776163;178776162;178776161 | chr2:179640890;179640889;179640888 |
| Novex-2 | 1855 | 5788;5789;5790 | chr2:178776163;178776162;178776161 | chr2:179640890;179640889;179640888 |
| Novex-3 | 1901 | 5926;5927;5928 | chr2:178776163;178776162;178776161 | chr2:179640890;179640889;179640888 |
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/G | rs1414147349  |
-0.263 | 1.0 | N | 0.66 | 0.484 | 0.18995819373 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| D/G | rs1414147349 |
-0.263 | 1.0 | N | 0.66 | 0.484 | 0.18995819373 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/G | rs1414147349 |
-0.263 | 1.0 | N | 0.66 | 0.484 | 0.18995819373 | gnomAD-4.0.0 | 9.29337E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10169E-05 | 0 | 3.20072E-05 |
| D/N | None | None | 1.0 | N | 0.626 | 0.388 | 0.149567049428 | gnomAD-4.0.0 | 1.5905E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85657E-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 | 0.8664 | likely_pathogenic | 0.7991 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.417381985 | None | None | N |
| D/C | 0.9902 | likely_pathogenic | 0.9832 | pathogenic | 0.059 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| D/E | 0.6885 | likely_pathogenic | 0.5515 | ambiguous | -0.453 | Destabilizing | 1.0 | D | 0.421 | neutral | N | 0.423307637 | None | None | N |
| D/F | 0.9811 | likely_pathogenic | 0.9651 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| D/G | 0.8415 | likely_pathogenic | 0.714 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.426118308 | None | None | N |
| D/H | 0.9624 | likely_pathogenic | 0.9242 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.658 | neutral | N | 0.417054046 | None | None | N |
| D/I | 0.986 | likely_pathogenic | 0.9723 | pathogenic | 0.203 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| D/K | 0.9848 | likely_pathogenic | 0.9618 | pathogenic | 0.06 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| D/L | 0.966 | likely_pathogenic | 0.9382 | pathogenic | 0.203 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| D/M | 0.9919 | likely_pathogenic | 0.9847 | pathogenic | 0.509 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/N | 0.719 | likely_pathogenic | 0.51 | ambiguous | -0.136 | Destabilizing | 1.0 | D | 0.626 | neutral | N | 0.4158399 | None | None | N |
| D/P | 0.9942 | likely_pathogenic | 0.9923 | pathogenic | 0.045 | Stabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| D/Q | 0.9627 | likely_pathogenic | 0.9257 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/R | 0.977 | likely_pathogenic | 0.9524 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/S | 0.7918 | likely_pathogenic | 0.6344 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| D/T | 0.9446 | likely_pathogenic | 0.9005 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| D/V | 0.9581 | likely_pathogenic | 0.9258 | pathogenic | 0.045 | Stabilizing | 1.0 | D | 0.747 | deleterious | N | 0.450828989 | None | None | N |
| D/W | 0.9965 | likely_pathogenic | 0.9938 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/Y | 0.9062 | likely_pathogenic | 0.8313 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.439865729 | 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.