Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27442 | 82549;82550;82551 | chr2:178563808;178563807;178563806 | chr2:179428535;179428534;179428533 |
| N2AB | 25801 | 77626;77627;77628 | chr2:178563808;178563807;178563806 | chr2:179428535;179428534;179428533 |
| N2A | 24874 | 74845;74846;74847 | chr2:178563808;178563807;178563806 | chr2:179428535;179428534;179428533 |
| N2B | 18377 | 55354;55355;55356 | chr2:178563808;178563807;178563806 | chr2:179428535;179428534;179428533 |
| Novex-1 | 18502 | 55729;55730;55731 | chr2:178563808;178563807;178563806 | chr2:179428535;179428534;179428533 |
| Novex-2 | 18569 | 55930;55931;55932 | chr2:178563808;178563807;178563806 | chr2:179428535;179428534;179428533 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/I | None | None | 1.0 | N | 0.775 | 0.527 | 0.515771540734 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9969 | likely_pathogenic | 0.9964 | pathogenic | -2.519 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| F/C | 0.9681 | likely_pathogenic | 0.9672 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.560304487 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.458 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.204 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| F/G | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -2.986 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| F/H | 0.996 | likely_pathogenic | 0.9962 | pathogenic | -2.261 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/I | 0.9102 | likely_pathogenic | 0.906 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.497617022 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.285 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| F/L | 0.9876 | likely_pathogenic | 0.9845 | pathogenic | -0.97 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | N | 0.502999073 | None | None | N |
| F/M | 0.9659 | likely_pathogenic | 0.9601 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| F/N | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -3.052 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.503 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| F/Q | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.76 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/R | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -2.281 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| F/S | 0.9968 | likely_pathogenic | 0.9967 | pathogenic | -3.423 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.560304487 | None | None | N |
| F/T | 0.9973 | likely_pathogenic | 0.9971 | pathogenic | -3.037 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/V | 0.9239 | likely_pathogenic | 0.9211 | pathogenic | -1.503 | Destabilizing | 1.0 | D | 0.768 | deleterious | N | 0.496118857 | None | None | N |
| F/W | 0.9432 | likely_pathogenic | 0.9477 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| F/Y | 0.8192 | likely_pathogenic | 0.8369 | pathogenic | -0.917 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.506699284 | 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.