Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23643 | 71152;71153;71154 | chr2:178575205;178575204;178575203 | chr2:179439932;179439931;179439930 |
| N2AB | 22002 | 66229;66230;66231 | chr2:178575205;178575204;178575203 | chr2:179439932;179439931;179439930 |
| N2A | 21075 | 63448;63449;63450 | chr2:178575205;178575204;178575203 | chr2:179439932;179439931;179439930 |
| N2B | 14578 | 43957;43958;43959 | chr2:178575205;178575204;178575203 | chr2:179439932;179439931;179439930 |
| Novex-1 | 14703 | 44332;44333;44334 | chr2:178575205;178575204;178575203 | chr2:179439932;179439931;179439930 |
| Novex-2 | 14770 | 44533;44534;44535 | chr2:178575205;178575204;178575203 | chr2:179439932;179439931;179439930 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.892 | D | 0.441 | 0.547 | 0.656813955947 | 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 |
| V/I | rs1249962970  |
0.015 | 0.63 | N | 0.512 | 0.145 | 0.524792858863 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| V/I | rs1249962970 |
0.015 | 0.63 | N | 0.512 | 0.145 | 0.524792858863 | gnomAD-4.0.0 | 6.37473E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.74119E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5132 | ambiguous | 0.5588 | ambiguous | -1.29 | Destabilizing | 0.892 | D | 0.441 | neutral | D | 0.537276072 | None | None | N |
| V/C | 0.8138 | likely_pathogenic | 0.838 | pathogenic | -1.031 | Destabilizing | 0.999 | D | 0.768 | deleterious | None | None | None | None | N |
| V/D | 0.9399 | likely_pathogenic | 0.9564 | pathogenic | -1.11 | Destabilizing | 0.994 | D | 0.853 | deleterious | D | 0.528722738 | None | None | N |
| V/E | 0.8357 | likely_pathogenic | 0.865 | pathogenic | -1.057 | Destabilizing | 0.996 | D | 0.814 | deleterious | None | None | None | None | N |
| V/F | 0.2541 | likely_benign | 0.301 | benign | -0.805 | Destabilizing | 0.056 | N | 0.375 | neutral | D | 0.536238709 | None | None | N |
| V/G | 0.7243 | likely_pathogenic | 0.7767 | pathogenic | -1.644 | Destabilizing | 0.983 | D | 0.811 | deleterious | D | 0.527962269 | None | None | N |
| V/H | 0.857 | likely_pathogenic | 0.8853 | pathogenic | -1.092 | Destabilizing | 0.999 | D | 0.85 | deleterious | None | None | None | None | N |
| V/I | 0.0814 | likely_benign | 0.0894 | benign | -0.407 | Destabilizing | 0.63 | D | 0.512 | neutral | N | 0.465741261 | None | None | N |
| V/K | 0.835 | likely_pathogenic | 0.859 | pathogenic | -1.257 | Destabilizing | 0.987 | D | 0.813 | deleterious | None | None | None | None | N |
| V/L | 0.2533 | likely_benign | 0.3021 | benign | -0.407 | Destabilizing | 0.63 | D | 0.457 | neutral | N | 0.465125185 | None | None | N |
| V/M | 0.2608 | likely_benign | 0.3057 | benign | -0.458 | Destabilizing | 0.987 | D | 0.678 | prob.neutral | None | None | None | None | N |
| V/N | 0.8447 | likely_pathogenic | 0.8859 | pathogenic | -1.216 | Destabilizing | 0.996 | D | 0.864 | deleterious | None | None | None | None | N |
| V/P | 0.9526 | likely_pathogenic | 0.9701 | pathogenic | -0.666 | Destabilizing | 0.996 | D | 0.827 | deleterious | None | None | None | None | N |
| V/Q | 0.7679 | likely_pathogenic | 0.7991 | pathogenic | -1.263 | Destabilizing | 0.996 | D | 0.833 | deleterious | None | None | None | None | N |
| V/R | 0.788 | likely_pathogenic | 0.8159 | pathogenic | -0.83 | Destabilizing | 0.996 | D | 0.866 | deleterious | None | None | None | None | N |
| V/S | 0.724 | likely_pathogenic | 0.7731 | pathogenic | -1.751 | Destabilizing | 0.987 | D | 0.779 | deleterious | None | None | None | None | N |
| V/T | 0.5855 | likely_pathogenic | 0.6212 | pathogenic | -1.571 | Destabilizing | 0.957 | D | 0.521 | neutral | None | None | None | None | N |
| V/W | 0.8991 | likely_pathogenic | 0.9253 | pathogenic | -1.052 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
| V/Y | 0.689 | likely_pathogenic | 0.7433 | pathogenic | -0.727 | Destabilizing | 0.95 | D | 0.725 | prob.delet. | 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.