Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19079 | 57460;57461;57462 | chr2:178597935;178597934;178597933 | chr2:179462662;179462661;179462660 |
| N2AB | 17438 | 52537;52538;52539 | chr2:178597935;178597934;178597933 | chr2:179462662;179462661;179462660 |
| N2A | 16511 | 49756;49757;49758 | chr2:178597935;178597934;178597933 | chr2:179462662;179462661;179462660 |
| N2B | 10014 | 30265;30266;30267 | chr2:178597935;178597934;178597933 | chr2:179462662;179462661;179462660 |
| Novex-1 | 10139 | 30640;30641;30642 | chr2:178597935;178597934;178597933 | chr2:179462662;179462661;179462660 |
| Novex-2 | 10206 | 30841;30842;30843 | chr2:178597935;178597934;178597933 | chr2:179462662;179462661;179462660 |
| 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/N | rs1160274836  |
0.137 | 0.883 | N | 0.589 | 0.246 | 0.324161360171 | gnomAD-4.0.0 | 1.5924E-06 | None | None | None | None | N | None | 0 | 2.28885E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | None | None | 0.883 | N | 0.713 | 0.325 | 0.40528724903 | 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 |
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 | 0.1697 | likely_benign | 0.1612 | benign | 0.108 | Stabilizing | 0.518 | D | 0.519 | neutral | N | 0.483651365 | None | None | N |
| D/C | 0.7347 | likely_pathogenic | 0.6979 | pathogenic | -0.141 | Destabilizing | 0.996 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/E | 0.1399 | likely_benign | 0.1196 | benign | -0.36 | Destabilizing | 0.003 | N | 0.143 | neutral | N | 0.39845661 | None | None | N |
| D/F | 0.8173 | likely_pathogenic | 0.7993 | pathogenic | 0.108 | Stabilizing | 0.996 | D | 0.687 | prob.delet. | None | None | None | None | N |
| D/G | 0.1573 | likely_benign | 0.1416 | benign | -0.029 | Destabilizing | 0.682 | D | 0.588 | neutral | N | 0.483171363 | None | None | N |
| D/H | 0.4147 | ambiguous | 0.3715 | ambiguous | 0.699 | Stabilizing | 0.983 | D | 0.609 | neutral | N | 0.469590677 | None | None | N |
| D/I | 0.6331 | likely_pathogenic | 0.5802 | pathogenic | 0.404 | Stabilizing | 0.953 | D | 0.721 | deleterious | None | None | None | None | N |
| D/K | 0.4927 | ambiguous | 0.4088 | ambiguous | 0.531 | Stabilizing | 0.587 | D | 0.588 | neutral | None | None | None | None | N |
| D/L | 0.5875 | likely_pathogenic | 0.5385 | ambiguous | 0.404 | Stabilizing | 0.909 | D | 0.711 | prob.delet. | None | None | None | None | N |
| D/M | 0.716 | likely_pathogenic | 0.6866 | pathogenic | 0.141 | Stabilizing | 0.996 | D | 0.72 | deleterious | None | None | None | None | N |
| D/N | 0.1294 | likely_benign | 0.118 | benign | 0.116 | Stabilizing | 0.883 | D | 0.589 | neutral | N | 0.487961107 | None | None | N |
| D/P | 0.7181 | likely_pathogenic | 0.6558 | pathogenic | 0.326 | Stabilizing | 0.953 | D | 0.621 | neutral | None | None | None | None | N |
| D/Q | 0.4071 | ambiguous | 0.3501 | ambiguous | 0.152 | Stabilizing | 0.833 | D | 0.584 | neutral | None | None | None | None | N |
| D/R | 0.5535 | ambiguous | 0.4969 | ambiguous | 0.78 | Stabilizing | 0.909 | D | 0.693 | prob.delet. | None | None | None | None | N |
| D/S | 0.1362 | likely_benign | 0.1219 | benign | 0.078 | Stabilizing | 0.587 | D | 0.551 | neutral | None | None | None | None | N |
| D/T | 0.2707 | likely_benign | 0.2417 | benign | 0.199 | Stabilizing | 0.909 | D | 0.583 | neutral | None | None | None | None | N |
| D/V | 0.3776 | ambiguous | 0.3382 | benign | 0.326 | Stabilizing | 0.883 | D | 0.713 | prob.delet. | N | 0.515723711 | None | None | N |
| D/W | 0.9331 | likely_pathogenic | 0.9322 | pathogenic | 0.161 | Stabilizing | 0.996 | D | 0.663 | prob.neutral | None | None | None | None | N |
| D/Y | 0.4555 | ambiguous | 0.4185 | ambiguous | 0.342 | Stabilizing | 0.994 | D | 0.685 | prob.delet. | N | 0.49128933 | 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.