Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 97 | 514;515;516 | chr2:178802144;178802143;178802142 | chr2:179666871;179666870;179666869 |
| N2AB | 97 | 514;515;516 | chr2:178802144;178802143;178802142 | chr2:179666871;179666870;179666869 |
| N2A | 97 | 514;515;516 | chr2:178802144;178802143;178802142 | chr2:179666871;179666870;179666869 |
| N2B | 97 | 514;515;516 | chr2:178802144;178802143;178802142 | chr2:179666871;179666870;179666869 |
| Novex-1 | 97 | 514;515;516 | chr2:178802144;178802143;178802142 | chr2:179666871;179666870;179666869 |
| Novex-2 | 97 | 514;515;516 | chr2:178802144;178802143;178802142 | chr2:179666871;179666870;179666869 |
| Novex-3 | 97 | 514;515;516 | chr2:178802144;178802143;178802142 | chr2:179666871;179666870;179666869 |
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/L | None | None | 0.927 | D | 0.72 | 0.605 | 0.707868329428 | gnomAD-4.0.0 | 6.84083E-07 | None | None | None | -0.732(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15942E-05 | 0 |
| V/M | rs185921345  |
-1.282 | 1.0 | D | 0.865 | 0.623 | None | gnomAD-2.1.1 | 2.59558E-03 | None | None | None | -0.998(TCAP) | N | None | 1.60244E-04 | 0 | None | 9.64692E-04 | 5.02E-05 | None | 3.27E-05 | None | 2.29716E-02 | 8.13134E-04 | 4.98201E-03 |
| V/M | rs185921345 |
-1.282 | 1.0 | D | 0.865 | 0.623 | None | gnomAD-3.1.2 | 1.99132E-03 | None | None | None | -0.998(TCAP) | N | None | 1.68943E-04 | 0 | 0 | 1.15274E-03 | 7.69823E-04 | None | 2.3383E-02 | 0 | 5.5861E-04 | 0 | 9.5511E-04 |
| V/M | rs185921345 |
-1.282 | 1.0 | D | 0.865 | 0.623 | None | 1000 genomes | 1.19808E-03 | None | None | None | -0.998(TCAP) | N | None | 0 | 0 | None | None | 0 | 6E-03 | None | None | None | 0 | None |
| V/M | rs185921345 |
-1.282 | 1.0 | D | 0.865 | 0.623 | None | gnomAD-4.0.0 | 1.17342E-03 | None | None | None | -0.998(TCAP) | N | None | 1.86577E-04 | 1.666E-05 | None | 7.43093E-04 | 1.11413E-04 | None | 2.43822E-02 | 6.62252E-04 | 1.81357E-04 | 4.39213E-05 | 1.10386E-03 |
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 | 0.903 | likely_pathogenic | 0.9032 | pathogenic | -1.894 | Destabilizing | 0.984 | D | 0.713 | prob.delet. | D | 0.782840819 | None | -0.289(TCAP) | N |
| V/C | 0.994 | likely_pathogenic | 0.9938 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | -1.475(TCAP) | N |
| V/D | 0.9971 | likely_pathogenic | 0.9968 | pathogenic | -1.942 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | -1.048(TCAP) | N |
| V/E | 0.9884 | likely_pathogenic | 0.9874 | pathogenic | -1.845 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.83525447 | None | -1.235(TCAP) | N |
| V/F | 0.8757 | likely_pathogenic | 0.8766 | pathogenic | -1.194 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | -0.714(TCAP) | N |
| V/G | 0.9455 | likely_pathogenic | 0.9422 | pathogenic | -2.308 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.83525447 | None | -0.165(TCAP) | N |
| V/H | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -1.836 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | -0.297(TCAP) | N |
| V/I | 0.1311 | likely_benign | 0.1369 | benign | -0.799 | Destabilizing | 0.006 | N | 0.547 | neutral | None | None | None | -0.732(TCAP) | N |
| V/K | 0.9948 | likely_pathogenic | 0.9945 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | -1.589(TCAP) | N |
| V/L | 0.6211 | likely_pathogenic | 0.6224 | pathogenic | -0.799 | Destabilizing | 0.927 | D | 0.72 | prob.delet. | D | 0.721755778 | None | -0.732(TCAP) | N |
| V/M | 0.8243 | likely_pathogenic | 0.8778 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.802248995 | None | -0.998(TCAP) | N |
| V/N | 0.9927 | likely_pathogenic | 0.9926 | pathogenic | -1.533 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | -0.929(TCAP) | N |
| V/P | 0.9864 | likely_pathogenic | 0.9856 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | -0.574(TCAP) | N |
| V/Q | 0.9903 | likely_pathogenic | 0.9893 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | -1.106(TCAP) | N |
| V/R | 0.9897 | likely_pathogenic | 0.9882 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | -1.43(TCAP) | N |
| V/S | 0.9757 | likely_pathogenic | 0.9741 | pathogenic | -2.146 | Highly Destabilizing | 0.998 | D | 0.848 | deleterious | None | None | None | -0.748(TCAP) | N |
| V/T | 0.9333 | likely_pathogenic | 0.9356 | pathogenic | -1.932 | Destabilizing | 0.97 | D | 0.8 | deleterious | None | None | None | -0.948(TCAP) | N |
| V/W | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -1.494 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | -1.1(TCAP) | N |
| V/Y | 0.9934 | likely_pathogenic | 0.993 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | -0.742(TCAP) | 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.