Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1307 | 4144;4145;4146 | chr2:178779273;178779272;178779271 | chr2:179644000;179643999;179643998 |
| N2AB | 1307 | 4144;4145;4146 | chr2:178779273;178779272;178779271 | chr2:179644000;179643999;179643998 |
| N2A | 1307 | 4144;4145;4146 | chr2:178779273;178779272;178779271 | chr2:179644000;179643999;179643998 |
| N2B | 1261 | 4006;4007;4008 | chr2:178779273;178779272;178779271 | chr2:179644000;179643999;179643998 |
| Novex-1 | 1261 | 4006;4007;4008 | chr2:178779273;178779272;178779271 | chr2:179644000;179643999;179643998 |
| Novex-2 | 1261 | 4006;4007;4008 | chr2:178779273;178779272;178779271 | chr2:179644000;179643999;179643998 |
| Novex-3 | 1307 | 4144;4145;4146 | chr2:178779273;178779272;178779271 | chr2:179644000;179643999;179643998 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs776940545  |
-0.99 | 0.946 | N | 0.769 | 0.289 | 0.112648838833 | gnomAD-2.1.1 | 8E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| G/D | rs776940545 |
-0.99 | 0.946 | N | 0.769 | 0.289 | 0.112648838833 | gnomAD-4.0.0 | 4.10529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59777E-06 | 0 | 3.31203E-05 |
| G/V | None | None | 0.946 | N | 0.782 | 0.343 | 0.45746916685 | gnomAD-4.0.0 | 6.84215E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65601E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1453 | likely_benign | 0.1615 | benign | -0.511 | Destabilizing | 0.716 | D | 0.494 | neutral | N | 0.370645283 | None | None | N |
| G/C | 0.4923 | ambiguous | 0.5309 | ambiguous | -0.872 | Destabilizing | 0.993 | D | 0.786 | deleterious | N | 0.440363804 | None | None | N |
| G/D | 0.6145 | likely_pathogenic | 0.6519 | pathogenic | -0.835 | Destabilizing | 0.946 | D | 0.769 | deleterious | N | 0.352081814 | None | None | N |
| G/E | 0.5552 | ambiguous | 0.6094 | pathogenic | -0.903 | Destabilizing | 0.921 | D | 0.773 | deleterious | None | None | None | None | N |
| G/F | 0.8648 | likely_pathogenic | 0.8936 | pathogenic | -0.838 | Destabilizing | 0.994 | D | 0.813 | deleterious | None | None | None | None | N |
| G/H | 0.7803 | likely_pathogenic | 0.821 | pathogenic | -1.037 | Destabilizing | 0.994 | D | 0.773 | deleterious | None | None | None | None | N |
| G/I | 0.6114 | likely_pathogenic | 0.6734 | pathogenic | -0.207 | Destabilizing | 0.959 | D | 0.821 | deleterious | None | None | None | None | N |
| G/K | 0.8519 | likely_pathogenic | 0.8804 | pathogenic | -1.179 | Destabilizing | 0.921 | D | 0.783 | deleterious | None | None | None | None | N |
| G/L | 0.72 | likely_pathogenic | 0.7695 | pathogenic | -0.207 | Destabilizing | 0.959 | D | 0.781 | deleterious | None | None | None | None | N |
| G/M | 0.7039 | likely_pathogenic | 0.7607 | pathogenic | -0.309 | Destabilizing | 0.998 | D | 0.789 | deleterious | None | None | None | None | N |
| G/N | 0.5224 | ambiguous | 0.5894 | pathogenic | -0.857 | Destabilizing | 0.921 | D | 0.799 | deleterious | None | None | None | None | N |
| G/P | 0.788 | likely_pathogenic | 0.8352 | pathogenic | -0.267 | Destabilizing | 0.979 | D | 0.81 | deleterious | None | None | None | None | N |
| G/Q | 0.6953 | likely_pathogenic | 0.7421 | pathogenic | -1.021 | Destabilizing | 0.959 | D | 0.823 | deleterious | None | None | None | None | N |
| G/R | 0.7478 | likely_pathogenic | 0.7809 | pathogenic | -0.844 | Destabilizing | 0.946 | D | 0.814 | deleterious | N | 0.378833953 | None | None | N |
| G/S | 0.1335 | likely_benign | 0.1496 | benign | -1.099 | Destabilizing | 0.035 | N | 0.369 | neutral | N | 0.299780159 | None | None | N |
| G/T | 0.2672 | likely_benign | 0.3124 | benign | -1.081 | Destabilizing | 0.171 | N | 0.445 | neutral | None | None | None | None | N |
| G/V | 0.413 | ambiguous | 0.4702 | ambiguous | -0.267 | Destabilizing | 0.946 | D | 0.782 | deleterious | N | 0.381652821 | None | None | N |
| G/W | 0.7934 | likely_pathogenic | 0.8257 | pathogenic | -1.183 | Destabilizing | 0.998 | D | 0.752 | deleterious | None | None | None | None | N |
| G/Y | 0.8051 | likely_pathogenic | 0.8389 | pathogenic | -0.761 | Destabilizing | 0.994 | D | 0.815 | 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.