Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17100 | 51523;51524;51525 | chr2:178610228;178610227;178610226 | chr2:179474955;179474954;179474953 |
| N2AB | 15459 | 46600;46601;46602 | chr2:178610228;178610227;178610226 | chr2:179474955;179474954;179474953 |
| N2A | 14532 | 43819;43820;43821 | chr2:178610228;178610227;178610226 | chr2:179474955;179474954;179474953 |
| N2B | 8035 | 24328;24329;24330 | chr2:178610228;178610227;178610226 | chr2:179474955;179474954;179474953 |
| Novex-1 | 8160 | 24703;24704;24705 | chr2:178610228;178610227;178610226 | chr2:179474955;179474954;179474953 |
| Novex-2 | 8227 | 24904;24905;24906 | chr2:178610228;178610227;178610226 | chr2:179474955;179474954;179474953 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | N | 0.703 | 0.514 | 0.327952845175 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.694 | 0.412 | 0.267755039894 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4083 | ambiguous | 0.3845 | ambiguous | -0.446 | Destabilizing | 1.0 | D | 0.568 | neutral | N | 0.508936599 | None | None | N |
| G/C | 0.7114 | likely_pathogenic | 0.6915 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.496816874 | None | None | N |
| G/D | 0.8277 | likely_pathogenic | 0.7733 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.452773885 | None | None | N |
| G/E | 0.796 | likely_pathogenic | 0.7649 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/F | 0.943 | likely_pathogenic | 0.9374 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/H | 0.8941 | likely_pathogenic | 0.8783 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| G/I | 0.8861 | likely_pathogenic | 0.8845 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/K | 0.8775 | likely_pathogenic | 0.8611 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/L | 0.8738 | likely_pathogenic | 0.8611 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/M | 0.8866 | likely_pathogenic | 0.8786 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| G/N | 0.751 | likely_pathogenic | 0.705 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/P | 0.9699 | likely_pathogenic | 0.9667 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/Q | 0.7909 | likely_pathogenic | 0.7676 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/R | 0.7794 | likely_pathogenic | 0.7625 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.505955009 | None | None | N |
| G/S | 0.3111 | likely_benign | 0.294 | benign | -0.651 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.467799265 | None | None | N |
| G/T | 0.6081 | likely_pathogenic | 0.5977 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/V | 0.7712 | likely_pathogenic | 0.7705 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.505608292 | None | None | N |
| G/W | 0.8949 | likely_pathogenic | 0.8936 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| G/Y | 0.9242 | likely_pathogenic | 0.9151 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | 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.