Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6035 | 18328;18329;18330 | chr2:178730297;178730296;178730295 | chr2:179595024;179595023;179595022 |
| N2AB | 5718 | 17377;17378;17379 | chr2:178730297;178730296;178730295 | chr2:179595024;179595023;179595022 |
| N2A | 4791 | 14596;14597;14598 | chr2:178730297;178730296;178730295 | chr2:179595024;179595023;179595022 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs1207028301  |
-2.166 | 0.78 | N | 0.686 | 0.526 | 0.556932860221 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 6.52E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1207028301 |
-2.166 | 0.78 | N | 0.686 | 0.526 | 0.556932860221 | gnomAD-4.0.0 | 1.5956E-06 | None | None | None | None | N | None | 5.65867E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs909868763 |
None | 0.011 | D | 0.249 | 0.385 | 0.307332253619 | gnomAD-4.0.0 | 6.85042E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00106E-07 | 0 | 0 |
| V/M | rs909868763 |
None | 0.437 | D | 0.431 | 0.524 | 0.428630128466 | gnomAD-4.0.0 | 1.37008E-06 | None | None | None | None | N | None | 2.98918E-05 | 0 | None | 0 | 0 | None | 0 | 1.73671E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1895 | likely_benign | 0.2024 | benign | -1.642 | Destabilizing | 0.78 | D | 0.686 | prob.neutral | N | 0.473078239 | None | None | N |
| V/C | 0.8327 | likely_pathogenic | 0.8123 | pathogenic | -1.077 | Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| V/D | 0.9532 | likely_pathogenic | 0.952 | pathogenic | -2.138 | Highly Destabilizing | 0.996 | D | 0.853 | deleterious | None | None | None | None | N |
| V/E | 0.8858 | likely_pathogenic | 0.8915 | pathogenic | -1.886 | Destabilizing | 0.984 | D | 0.803 | deleterious | D | 0.587854754 | None | None | N |
| V/F | 0.2678 | likely_benign | 0.2455 | benign | -0.936 | Destabilizing | 0.976 | D | 0.8 | deleterious | None | None | None | None | N |
| V/G | 0.5042 | ambiguous | 0.4887 | ambiguous | -2.207 | Highly Destabilizing | 0.984 | D | 0.827 | deleterious | D | 0.537010695 | None | None | N |
| V/H | 0.9023 | likely_pathogenic | 0.8978 | pathogenic | -2.191 | Highly Destabilizing | 0.999 | D | 0.842 | deleterious | None | None | None | None | N |
| V/I | 0.0927 | likely_benign | 0.096 | benign | -0.055 | Destabilizing | 0.702 | D | 0.557 | neutral | None | None | None | None | N |
| V/K | 0.8855 | likely_pathogenic | 0.8857 | pathogenic | -1.079 | Destabilizing | 0.988 | D | 0.808 | deleterious | None | None | None | None | N |
| V/L | 0.2847 | likely_benign | 0.2863 | benign | -0.055 | Destabilizing | 0.011 | N | 0.249 | neutral | D | 0.549894562 | None | None | N |
| V/M | 0.2552 | likely_benign | 0.2694 | benign | -0.173 | Destabilizing | 0.437 | N | 0.431 | neutral | D | 0.571431784 | None | None | N |
| V/N | 0.8656 | likely_pathogenic | 0.8628 | pathogenic | -1.49 | Destabilizing | 0.996 | D | 0.86 | deleterious | None | None | None | None | N |
| V/P | 0.8888 | likely_pathogenic | 0.8909 | pathogenic | -0.558 | Destabilizing | 0.996 | D | 0.823 | deleterious | None | None | None | None | N |
| V/Q | 0.8084 | likely_pathogenic | 0.8145 | pathogenic | -1.233 | Destabilizing | 0.988 | D | 0.82 | deleterious | None | None | None | None | N |
| V/R | 0.8219 | likely_pathogenic | 0.8132 | pathogenic | -1.194 | Destabilizing | 0.988 | D | 0.853 | deleterious | None | None | None | None | N |
| V/S | 0.4856 | ambiguous | 0.4874 | ambiguous | -2.105 | Highly Destabilizing | 0.988 | D | 0.805 | deleterious | None | None | None | None | N |
| V/T | 0.2815 | likely_benign | 0.2985 | benign | -1.698 | Destabilizing | 0.919 | D | 0.703 | prob.neutral | None | None | None | None | N |
| V/W | 0.9108 | likely_pathogenic | 0.8951 | pathogenic | -1.527 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| V/Y | 0.7936 | likely_pathogenic | 0.7716 | pathogenic | -1.066 | Destabilizing | 0.988 | D | 0.799 | 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.