Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32620 | 98083;98084;98085 | chr2:178540308;178540307;178540306 | chr2:179405035;179405034;179405033 |
| N2AB | 30979 | 93160;93161;93162 | chr2:178540308;178540307;178540306 | chr2:179405035;179405034;179405033 |
| N2A | 30052 | 90379;90380;90381 | chr2:178540308;178540307;178540306 | chr2:179405035;179405034;179405033 |
| N2B | 23555 | 70888;70889;70890 | chr2:178540308;178540307;178540306 | chr2:179405035;179405034;179405033 |
| Novex-1 | 23680 | 71263;71264;71265 | chr2:178540308;178540307;178540306 | chr2:179405035;179405034;179405033 |
| Novex-2 | 23747 | 71464;71465;71466 | chr2:178540308;178540307;178540306 | chr2:179405035;179405034;179405033 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs397517772  |
-0.216 | 0.999 | N | 0.637 | 0.325 | 0.547766246091 | gnomAD-2.1.1 | 2.39077E-04 | None | None | None | None | N | None | 0 | 0 | None | 5.12275E-03 | 0 | None | 0 | None | 0 | 7.03E-05 | 7.0205E-04 |
| A/V | rs397517772 |
-0.216 | 0.999 | N | 0.637 | 0.325 | 0.547766246091 | gnomAD-3.1.2 | 1.51212E-04 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 4.61361E-03 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 4.79386E-04 |
| A/V | rs397517772 |
-0.216 | 0.999 | N | 0.637 | 0.325 | 0.547766246091 | gnomAD-4.0.0 | 1.4192E-04 | None | None | None | None | N | None | 1.33554E-05 | 1.66689E-05 | None | 4.69658E-03 | 0 | None | 0 | 0 | 5.34025E-05 | 0 | 4.0032E-04 |
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 | 0.5736 | likely_pathogenic | 0.5265 | ambiguous | -1.184 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/D | 0.8199 | likely_pathogenic | 0.7913 | pathogenic | -2.151 | Highly Destabilizing | 0.999 | D | 0.806 | deleterious | N | 0.47012779 | None | None | N |
| A/E | 0.6671 | likely_pathogenic | 0.6198 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/F | 0.6268 | likely_pathogenic | 0.5698 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| A/G | 0.2446 | likely_benign | 0.2132 | benign | -1.461 | Destabilizing | 0.434 | N | 0.357 | neutral | N | 0.466836108 | None | None | N |
| A/H | 0.8023 | likely_pathogenic | 0.7516 | pathogenic | -1.876 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/I | 0.5847 | likely_pathogenic | 0.5617 | ambiguous | 0.154 | Stabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/K | 0.8563 | likely_pathogenic | 0.8241 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/L | 0.4474 | ambiguous | 0.3926 | ambiguous | 0.154 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| A/M | 0.4817 | ambiguous | 0.4535 | ambiguous | -0.136 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| A/N | 0.6424 | likely_pathogenic | 0.6105 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| A/P | 0.9871 | likely_pathogenic | 0.9863 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.507185674 | None | None | N |
| A/Q | 0.5917 | likely_pathogenic | 0.5378 | ambiguous | -1.256 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/R | 0.7525 | likely_pathogenic | 0.7099 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| A/S | 0.138 | likely_benign | 0.1161 | benign | -1.794 | Destabilizing | 0.996 | D | 0.555 | neutral | N | 0.402803637 | None | None | N |
| A/T | 0.2318 | likely_benign | 0.216 | benign | -1.516 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | N | 0.441826172 | None | None | N |
| A/V | 0.3752 | ambiguous | 0.3538 | ambiguous | -0.191 | Destabilizing | 0.999 | D | 0.637 | neutral | N | 0.508533954 | None | None | N |
| A/W | 0.9316 | likely_pathogenic | 0.9121 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/Y | 0.756 | likely_pathogenic | 0.7188 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.868 | 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.