Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 185 | 778;779;780 | chr2:178800425;178800424;178800423 | chr2:179665152;179665151;179665150 |
| N2AB | 185 | 778;779;780 | chr2:178800425;178800424;178800423 | chr2:179665152;179665151;179665150 |
| N2A | 185 | 778;779;780 | chr2:178800425;178800424;178800423 | chr2:179665152;179665151;179665150 |
| N2B | 185 | 778;779;780 | chr2:178800425;178800424;178800423 | chr2:179665152;179665151;179665150 |
| Novex-1 | 185 | 778;779;780 | chr2:178800425;178800424;178800423 | chr2:179665152;179665151;179665150 |
| Novex-2 | 185 | 778;779;780 | chr2:178800425;178800424;178800423 | chr2:179665152;179665151;179665150 |
| Novex-3 | 185 | 778;779;780 | chr2:178800425;178800424;178800423 | chr2:179665152;179665151;179665150 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs2094001955  |
None | 0.998 | N | 0.619 | 0.438 | 0.440915056915 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.72(TCAP) | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs2094001955 |
None | 0.998 | N | 0.619 | 0.438 | 0.440915056915 | gnomAD-4.0.0 | 6.57013E-06 | None | None | None | -0.72(TCAP) | I | None | 2.41289E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 1.0 | N | 0.699 | 0.445 | 0.639084873237 | gnomAD-4.0.0 | 1.59047E-06 | None | None | None | -1.265(TCAP) | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85652E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8987 | likely_pathogenic | 0.9135 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | -0.481(TCAP) | I |
| A/D | 0.6204 | likely_pathogenic | 0.7196 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.514729518 | None | -1.008(TCAP) | I |
| A/E | 0.6542 | likely_pathogenic | 0.7367 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | -1.114(TCAP) | I |
| A/F | 0.8055 | likely_pathogenic | 0.8464 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | -0.666(TCAP) | I |
| A/G | 0.4076 | ambiguous | 0.4699 | ambiguous | -1.072 | Destabilizing | 0.999 | D | 0.603 | neutral | D | 0.607868356 | None | -1.025(TCAP) | I |
| A/H | 0.891 | likely_pathogenic | 0.9211 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | -1.219(TCAP) | I |
| A/I | 0.7151 | likely_pathogenic | 0.8032 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | -1.368(TCAP) | I |
| A/K | 0.9142 | likely_pathogenic | 0.9431 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | -2.097(TCAP) | I |
| A/L | 0.601 | likely_pathogenic | 0.6773 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | -1.368(TCAP) | I |
| A/M | 0.6388 | likely_pathogenic | 0.725 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | -0.887(TCAP) | I |
| A/N | 0.657 | likely_pathogenic | 0.728 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | -0.721(TCAP) | I |
| A/P | 0.9631 | likely_pathogenic | 0.9771 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.648069418 | None | -1.265(TCAP) | I |
| A/Q | 0.7155 | likely_pathogenic | 0.7747 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | -0.832(TCAP) | I |
| A/R | 0.866 | likely_pathogenic | 0.9005 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | -2.586(TCAP) | I |
| A/S | 0.1621 | likely_benign | 0.1875 | benign | -1.042 | Destabilizing | 0.998 | D | 0.619 | neutral | N | 0.51348892 | None | -0.72(TCAP) | I |
| A/T | 0.2277 | likely_benign | 0.3205 | benign | -1.023 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.494212521 | None | -0.884(TCAP) | I |
| A/V | 0.3907 | ambiguous | 0.4935 | ambiguous | -0.563 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.490581739 | None | -1.265(TCAP) | I |
| A/W | 0.9781 | likely_pathogenic | 0.9841 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | -1.11(TCAP) | I |
| A/Y | 0.8949 | likely_pathogenic | 0.9241 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | -0.72(TCAP) | I |
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.