Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30742 | 92449;92450;92451 | chr2:178549402;178549401;178549400 | chr2:179414129;179414128;179414127 |
| N2AB | 29101 | 87526;87527;87528 | chr2:178549402;178549401;178549400 | chr2:179414129;179414128;179414127 |
| N2A | 28174 | 84745;84746;84747 | chr2:178549402;178549401;178549400 | chr2:179414129;179414128;179414127 |
| N2B | 21677 | 65254;65255;65256 | chr2:178549402;178549401;178549400 | chr2:179414129;179414128;179414127 |
| Novex-1 | 21802 | 65629;65630;65631 | chr2:178549402;178549401;178549400 | chr2:179414129;179414128;179414127 |
| Novex-2 | 21869 | 65830;65831;65832 | chr2:178549402;178549401;178549400 | chr2:179414129;179414128;179414127 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs1698436310  |
None | 0.997 | N | 0.565 | 0.298 | 0.231873229951 | gnomAD-4.0.0 | 3.18285E-06 | None | None | None | None | N | None | 0 | 4.57373E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/W | rs1698437169 |
None | 1.0 | D | 0.788 | 0.484 | 0.384252928164 | gnomAD-4.0.0 | 3.18296E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71706E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4487 | ambiguous | 0.4494 | ambiguous | -0.034 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| R/C | 0.2084 | likely_benign | 0.2037 | benign | -0.391 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| R/D | 0.8059 | likely_pathogenic | 0.8112 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| R/E | 0.4558 | ambiguous | 0.4731 | ambiguous | -0.312 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| R/F | 0.6312 | likely_pathogenic | 0.6274 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/G | 0.4241 | ambiguous | 0.4195 | ambiguous | -0.257 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.475963914 | None | None | N |
| R/H | 0.1378 | likely_benign | 0.1328 | benign | -0.956 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| R/I | 0.3794 | ambiguous | 0.3759 | ambiguous | 0.532 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| R/K | 0.1363 | likely_benign | 0.1319 | benign | -0.14 | Destabilizing | 0.997 | D | 0.565 | neutral | N | 0.496468734 | None | None | N |
| R/L | 0.3065 | likely_benign | 0.3019 | benign | 0.532 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| R/M | 0.3966 | ambiguous | 0.3969 | ambiguous | -0.164 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.480523044 | None | None | N |
| R/N | 0.7431 | likely_pathogenic | 0.7429 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| R/P | 0.3565 | ambiguous | 0.3663 | ambiguous | 0.363 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| R/Q | 0.1349 | likely_benign | 0.1359 | benign | -0.153 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| R/S | 0.6287 | likely_pathogenic | 0.6224 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.468290911 | None | None | N |
| R/T | 0.4439 | ambiguous | 0.4355 | ambiguous | -0.16 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.481217379 | None | None | N |
| R/V | 0.4353 | ambiguous | 0.4352 | ambiguous | 0.363 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| R/W | 0.2422 | likely_benign | 0.2374 | benign | -0.275 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.523555182 | None | None | N |
| R/Y | 0.453 | ambiguous | 0.4591 | ambiguous | 0.124 | Stabilizing | 1.0 | D | 0.78 | 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.