Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16436 | 49531;49532;49533 | chr2:178614091;178614090;178614089 | chr2:179478818;179478817;179478816 |
| N2AB | 14795 | 44608;44609;44610 | chr2:178614091;178614090;178614089 | chr2:179478818;179478817;179478816 |
| N2A | 13868 | 41827;41828;41829 | chr2:178614091;178614090;178614089 | chr2:179478818;179478817;179478816 |
| N2B | 7371 | 22336;22337;22338 | chr2:178614091;178614090;178614089 | chr2:179478818;179478817;179478816 |
| Novex-1 | 7496 | 22711;22712;22713 | chr2:178614091;178614090;178614089 | chr2:179478818;179478817;179478816 |
| Novex-2 | 7563 | 22912;22913;22914 | chr2:178614091;178614090;178614089 | chr2:179478818;179478817;179478816 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs527592906  |
-1.584 | 0.767 | D | 0.491 | 0.389 | 0.361160317528 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.95542E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs527592906 |
-1.584 | 0.767 | D | 0.491 | 0.389 | 0.361160317528 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| P/A | rs527592906 |
-1.584 | 0.767 | D | 0.491 | 0.389 | 0.361160317528 | gnomAD-4.0.0 | 6.58311E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.96002E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | None | None | 0.999 | D | 0.765 | 0.456 | 0.750163435421 | 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 |
| P/Q | rs1438404271 |
None | 1.0 | D | 0.845 | 0.467 | 0.57874735177 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.95465E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | rs1438404271 |
None | 1.0 | D | 0.845 | 0.467 | 0.57874735177 | gnomAD-4.0.0 | 6.58744E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.95465E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 0.998 | D | 0.739 | 0.382 | 0.42828666871 | gnomAD-4.0.0 | 1.59392E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86189E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0922 | likely_benign | 0.0809 | benign | -1.402 | Destabilizing | 0.767 | D | 0.491 | neutral | D | 0.587730671 | None | None | N |
| P/C | 0.5803 | likely_pathogenic | 0.5161 | ambiguous | -0.792 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/D | 0.8669 | likely_pathogenic | 0.8174 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/E | 0.7508 | likely_pathogenic | 0.6963 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/F | 0.5629 | ambiguous | 0.5193 | ambiguous | -1.18 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/G | 0.4193 | ambiguous | 0.359 | ambiguous | -1.662 | Destabilizing | 0.997 | D | 0.737 | prob.delet. | None | None | None | None | N |
| P/H | 0.4743 | ambiguous | 0.4477 | ambiguous | -1.213 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/I | 0.6061 | likely_pathogenic | 0.5374 | ambiguous | -0.805 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/K | 0.8776 | likely_pathogenic | 0.8286 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| P/L | 0.3862 | ambiguous | 0.325 | benign | -0.805 | Destabilizing | 0.999 | D | 0.765 | deleterious | D | 0.70353388 | None | None | N |
| P/M | 0.5207 | ambiguous | 0.4701 | ambiguous | -0.55 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/N | 0.6647 | likely_pathogenic | 0.6202 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Q | 0.5721 | likely_pathogenic | 0.5102 | ambiguous | -1.169 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.72767465 | None | None | N |
| P/R | 0.7909 | likely_pathogenic | 0.7267 | pathogenic | -0.635 | Destabilizing | 0.999 | D | 0.835 | deleterious | D | 0.705467003 | None | None | N |
| P/S | 0.2182 | likely_benign | 0.1912 | benign | -1.328 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | D | 0.643095968 | None | None | N |
| P/T | 0.2389 | likely_benign | 0.2021 | benign | -1.286 | Destabilizing | 0.999 | D | 0.743 | deleterious | D | 0.689432422 | None | None | N |
| P/V | 0.4242 | ambiguous | 0.3629 | ambiguous | -0.97 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| P/W | 0.8021 | likely_pathogenic | 0.7676 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/Y | 0.5812 | likely_pathogenic | 0.5313 | ambiguous | -1.076 | Destabilizing | 1.0 | D | 0.854 | 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.