Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27424 | 82495;82496;82497 | chr2:178563862;178563861;178563860 | chr2:179428589;179428588;179428587 |
| N2AB | 25783 | 77572;77573;77574 | chr2:178563862;178563861;178563860 | chr2:179428589;179428588;179428587 |
| N2A | 24856 | 74791;74792;74793 | chr2:178563862;178563861;178563860 | chr2:179428589;179428588;179428587 |
| N2B | 18359 | 55300;55301;55302 | chr2:178563862;178563861;178563860 | chr2:179428589;179428588;179428587 |
| Novex-1 | 18484 | 55675;55676;55677 | chr2:178563862;178563861;178563860 | chr2:179428589;179428588;179428587 |
| Novex-2 | 18551 | 55876;55877;55878 | chr2:178563862;178563861;178563860 | chr2:179428589;179428588;179428587 |
| 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/I | rs771672985  |
-0.04 | 0.025 | N | 0.199 | 0.126 | 0.451213972277 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs771672985 |
-0.04 | 0.025 | N | 0.199 | 0.126 | 0.451213972277 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| V/I | rs771672985 |
-0.04 | 0.025 | N | 0.199 | 0.126 | 0.451213972277 | gnomAD-4.0.0 | 2.02999E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20496E-06 | 4.69881E-05 | 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 | 0.3287 | likely_benign | 0.3076 | benign | -1.592 | Destabilizing | 0.014 | N | 0.288 | neutral | N | 0.46312267 | None | None | N |
| V/C | 0.7196 | likely_pathogenic | 0.7133 | pathogenic | -1.016 | Destabilizing | 0.994 | D | 0.715 | prob.delet. | None | None | None | None | N |
| V/D | 0.8214 | likely_pathogenic | 0.7788 | pathogenic | -2.287 | Highly Destabilizing | 0.978 | D | 0.796 | deleterious | None | None | None | None | N |
| V/E | 0.6861 | likely_pathogenic | 0.6488 | pathogenic | -2.026 | Highly Destabilizing | 0.942 | D | 0.733 | prob.delet. | N | 0.486911691 | None | None | N |
| V/F | 0.4062 | ambiguous | 0.372 | ambiguous | -0.881 | Destabilizing | 0.978 | D | 0.758 | deleterious | None | None | None | None | N |
| V/G | 0.4242 | ambiguous | 0.3698 | ambiguous | -2.154 | Highly Destabilizing | 0.698 | D | 0.751 | deleterious | N | 0.519900167 | None | None | N |
| V/H | 0.8778 | likely_pathogenic | 0.8602 | pathogenic | -2.147 | Highly Destabilizing | 0.998 | D | 0.777 | deleterious | None | None | None | None | N |
| V/I | 0.0885 | likely_benign | 0.087 | benign | -0.013 | Destabilizing | 0.025 | N | 0.199 | neutral | N | 0.455776905 | None | None | N |
| V/K | 0.8187 | likely_pathogenic | 0.7857 | pathogenic | -1.202 | Destabilizing | 0.956 | D | 0.726 | prob.delet. | None | None | None | None | N |
| V/L | 0.291 | likely_benign | 0.2568 | benign | -0.013 | Destabilizing | 0.489 | N | 0.451 | neutral | N | 0.517497367 | None | None | N |
| V/M | 0.2451 | likely_benign | 0.2219 | benign | -0.152 | Destabilizing | 0.978 | D | 0.686 | prob.neutral | None | None | None | None | N |
| V/N | 0.6087 | likely_pathogenic | 0.5455 | ambiguous | -1.647 | Destabilizing | 0.978 | D | 0.797 | deleterious | None | None | None | None | N |
| V/P | 0.8482 | likely_pathogenic | 0.8399 | pathogenic | -0.512 | Destabilizing | 0.978 | D | 0.761 | deleterious | None | None | None | None | N |
| V/Q | 0.7026 | likely_pathogenic | 0.6671 | pathogenic | -1.39 | Destabilizing | 0.978 | D | 0.752 | deleterious | None | None | None | None | N |
| V/R | 0.8026 | likely_pathogenic | 0.762 | pathogenic | -1.288 | Destabilizing | 0.978 | D | 0.802 | deleterious | None | None | None | None | N |
| V/S | 0.4643 | ambiguous | 0.4268 | ambiguous | -2.21 | Highly Destabilizing | 0.754 | D | 0.742 | deleterious | None | None | None | None | N |
| V/T | 0.3845 | ambiguous | 0.3539 | ambiguous | -1.798 | Destabilizing | 0.86 | D | 0.628 | neutral | None | None | None | None | N |
| V/W | 0.9509 | likely_pathogenic | 0.9456 | pathogenic | -1.499 | Destabilizing | 0.998 | D | 0.763 | deleterious | None | None | None | None | N |
| V/Y | 0.8131 | likely_pathogenic | 0.7806 | pathogenic | -1.005 | Destabilizing | 0.993 | D | 0.759 | 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.