Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27532 | 82819;82820;82821 | chr2:178563538;178563537;178563536 | chr2:179428265;179428264;179428263 |
| N2AB | 25891 | 77896;77897;77898 | chr2:178563538;178563537;178563536 | chr2:179428265;179428264;179428263 |
| N2A | 24964 | 75115;75116;75117 | chr2:178563538;178563537;178563536 | chr2:179428265;179428264;179428263 |
| N2B | 18467 | 55624;55625;55626 | chr2:178563538;178563537;178563536 | chr2:179428265;179428264;179428263 |
| Novex-1 | 18592 | 55999;56000;56001 | chr2:178563538;178563537;178563536 | chr2:179428265;179428264;179428263 |
| Novex-2 | 18659 | 56200;56201;56202 | chr2:178563538;178563537;178563536 | chr2:179428265;179428264;179428263 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs763850217  |
-0.093 | 0.999 | N | 0.783 | 0.393 | 0.494634796122 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| T/I | rs763850217 |
-0.093 | 0.999 | N | 0.783 | 0.393 | 0.494634796122 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs763850217 |
-0.093 | 0.999 | N | 0.783 | 0.393 | 0.494634796122 | gnomAD-4.0.0 | 5.5774E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93342E-06 | 0 | 3.20215E-05 |
| T/S | rs763850217 |
-0.367 | 0.905 | N | 0.337 | 0.169 | 0.273938319068 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| T/S | rs763850217 |
-0.367 | 0.905 | N | 0.337 | 0.169 | 0.273938319068 | gnomAD-4.0.0 | 1.36843E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52029E-05 | None | 0 | 0 | 8.99483E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1076 | likely_benign | 0.0951 | benign | -0.552 | Destabilizing | 0.981 | D | 0.465 | neutral | N | 0.483057939 | None | None | N |
| T/C | 0.488 | ambiguous | 0.4166 | ambiguous | -0.3 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| T/D | 0.6731 | likely_pathogenic | 0.641 | pathogenic | 0.155 | Stabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/E | 0.6003 | likely_pathogenic | 0.5902 | pathogenic | 0.084 | Stabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/F | 0.3841 | ambiguous | 0.3273 | benign | -0.991 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| T/G | 0.2365 | likely_benign | 0.2106 | benign | -0.696 | Destabilizing | 0.997 | D | 0.648 | neutral | None | None | None | None | N |
| T/H | 0.3996 | ambiguous | 0.3641 | ambiguous | -0.98 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/I | 0.3227 | likely_benign | 0.2611 | benign | -0.289 | Destabilizing | 0.999 | D | 0.783 | deleterious | N | 0.501112969 | None | None | N |
| T/K | 0.3818 | ambiguous | 0.3787 | ambiguous | -0.445 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
| T/L | 0.1383 | likely_benign | 0.1167 | benign | -0.289 | Destabilizing | 0.998 | D | 0.634 | neutral | None | None | None | None | N |
| T/M | 0.114 | likely_benign | 0.099 | benign | 0.002 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| T/N | 0.1877 | likely_benign | 0.158 | benign | -0.206 | Destabilizing | 0.999 | D | 0.629 | neutral | N | 0.485994001 | None | None | N |
| T/P | 0.1208 | likely_benign | 0.1117 | benign | -0.348 | Destabilizing | 1.0 | D | 0.784 | deleterious | N | 0.481892624 | None | None | N |
| T/Q | 0.3269 | likely_benign | 0.3142 | benign | -0.463 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/R | 0.3476 | ambiguous | 0.3391 | benign | -0.146 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| T/S | 0.1221 | likely_benign | 0.1121 | benign | -0.466 | Destabilizing | 0.905 | D | 0.337 | neutral | N | 0.482944863 | None | None | N |
| T/V | 0.2165 | likely_benign | 0.1741 | benign | -0.348 | Destabilizing | 0.998 | D | 0.541 | neutral | None | None | None | None | N |
| T/W | 0.7064 | likely_pathogenic | 0.6671 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/Y | 0.464 | ambiguous | 0.4002 | ambiguous | -0.685 | Destabilizing | 1.0 | D | 0.793 | 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.