Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19643 | 59152;59153;59154 | chr2:178593281;178593280;178593279 | chr2:179458008;179458007;179458006 |
| N2AB | 18002 | 54229;54230;54231 | chr2:178593281;178593280;178593279 | chr2:179458008;179458007;179458006 |
| N2A | 17075 | 51448;51449;51450 | chr2:178593281;178593280;178593279 | chr2:179458008;179458007;179458006 |
| N2B | 10578 | 31957;31958;31959 | chr2:178593281;178593280;178593279 | chr2:179458008;179458007;179458006 |
| Novex-1 | 10703 | 32332;32333;32334 | chr2:178593281;178593280;178593279 | chr2:179458008;179458007;179458006 |
| Novex-2 | 10770 | 32533;32534;32535 | chr2:178593281;178593280;178593279 | chr2:179458008;179458007;179458006 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs2050641106  |
None | 0.989 | N | 0.704 | 0.418 | 0.200317383148 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs2050641106 |
None | 0.989 | N | 0.704 | 0.418 | 0.200317383148 | gnomAD-4.0.0 | 6.57696E-06 | None | None | None | None | N | None | 2.41383E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs794729464 |
0.449 | 0.999 | N | 0.689 | 0.414 | 0.358540694251 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/H | rs794729464 |
0.449 | 0.999 | N | 0.689 | 0.414 | 0.358540694251 | gnomAD-4.0.0 | 3.18394E-06 | None | None | None | None | N | None | 0 | 4.5754E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2604 | likely_benign | 0.2056 | benign | -0.11 | Destabilizing | 0.977 | D | 0.659 | neutral | N | 0.482204884 | None | None | N |
| D/C | 0.6839 | likely_pathogenic | 0.6201 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/E | 0.1896 | likely_benign | 0.1691 | benign | -0.19 | Destabilizing | 0.117 | N | 0.197 | neutral | N | 0.472861155 | None | None | N |
| D/F | 0.6725 | likely_pathogenic | 0.614 | pathogenic | -0.071 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| D/G | 0.1914 | likely_benign | 0.1464 | benign | -0.28 | Destabilizing | 0.989 | D | 0.704 | prob.neutral | N | 0.394029438 | None | None | N |
| D/H | 0.3978 | ambiguous | 0.3228 | benign | 0.33 | Stabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.480065291 | None | None | N |
| D/I | 0.5859 | likely_pathogenic | 0.494 | ambiguous | 0.282 | Stabilizing | 0.998 | D | 0.73 | prob.delet. | None | None | None | None | N |
| D/K | 0.5487 | ambiguous | 0.4825 | ambiguous | 0.257 | Stabilizing | 0.99 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/L | 0.5127 | ambiguous | 0.449 | ambiguous | 0.282 | Stabilizing | 0.995 | D | 0.696 | prob.neutral | None | None | None | None | N |
| D/M | 0.7181 | likely_pathogenic | 0.6526 | pathogenic | 0.172 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| D/N | 0.137 | likely_benign | 0.1146 | benign | 0.054 | Stabilizing | 0.993 | D | 0.745 | deleterious | N | 0.445133049 | None | None | N |
| D/P | 0.865 | likely_pathogenic | 0.8096 | pathogenic | 0.173 | Stabilizing | 0.998 | D | 0.699 | prob.neutral | None | None | None | None | N |
| D/Q | 0.4316 | ambiguous | 0.3766 | ambiguous | 0.082 | Stabilizing | 0.99 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/R | 0.5809 | likely_pathogenic | 0.5164 | ambiguous | 0.527 | Stabilizing | 0.995 | D | 0.671 | neutral | None | None | None | None | N |
| D/S | 0.1841 | likely_benign | 0.1539 | benign | -0.09 | Destabilizing | 0.983 | D | 0.657 | neutral | None | None | None | None | N |
| D/T | 0.3718 | ambiguous | 0.309 | benign | 0.042 | Stabilizing | 0.995 | D | 0.718 | prob.delet. | None | None | None | None | N |
| D/V | 0.3989 | ambiguous | 0.312 | benign | 0.173 | Stabilizing | 0.997 | D | 0.705 | prob.neutral | N | 0.515312749 | None | None | N |
| D/W | 0.9179 | likely_pathogenic | 0.9002 | pathogenic | 0.016 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/Y | 0.293 | likely_benign | 0.2535 | benign | 0.157 | Stabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.515312749 | 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.