Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32275 | 97048;97049;97050 | chr2:178543150;178543149;178543148 | chr2:179407877;179407876;179407875 |
| N2AB | 30634 | 92125;92126;92127 | chr2:178543150;178543149;178543148 | chr2:179407877;179407876;179407875 |
| N2A | 29707 | 89344;89345;89346 | chr2:178543150;178543149;178543148 | chr2:179407877;179407876;179407875 |
| N2B | 23210 | 69853;69854;69855 | chr2:178543150;178543149;178543148 | chr2:179407877;179407876;179407875 |
| Novex-1 | 23335 | 70228;70229;70230 | chr2:178543150;178543149;178543148 | chr2:179407877;179407876;179407875 |
| Novex-2 | 23402 | 70429;70430;70431 | chr2:178543150;178543149;178543148 | chr2:179407877;179407876;179407875 |
| 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/S | rs1559119971  |
None | 1.0 | D | 0.852 | 0.709 | 0.861713873416 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| F/S | rs1559119971 |
None | 1.0 | D | 0.852 | 0.709 | 0.861713873416 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/S | rs1559119971 |
None | 1.0 | D | 0.852 | 0.709 | 0.861713873416 | gnomAD-4.0.0 | 1.42607E-05 | None | None | None | None | N | None | 1.33708E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.86558E-05 | 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 | 0.9967 | likely_pathogenic | 0.9968 | pathogenic | -2.251 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| F/C | 0.9789 | likely_pathogenic | 0.9765 | pathogenic | -1.42 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.54927735 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.303 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.061 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/G | 0.997 | likely_pathogenic | 0.9974 | pathogenic | -2.699 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| F/H | 0.995 | likely_pathogenic | 0.9956 | pathogenic | -1.963 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/I | 0.8853 | likely_pathogenic | 0.8795 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.492185746 | None | None | N |
| F/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.217 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| F/L | 0.9698 | likely_pathogenic | 0.9713 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.502834489 | None | None | N |
| F/M | 0.9626 | likely_pathogenic | 0.9643 | pathogenic | -0.549 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| F/N | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -2.97 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| F/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| F/Q | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -2.685 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/R | 0.998 | likely_pathogenic | 0.9984 | pathogenic | -2.225 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| F/S | 0.9974 | likely_pathogenic | 0.9976 | pathogenic | -3.34 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.54927735 | None | None | N |
| F/T | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -2.969 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/V | 0.9143 | likely_pathogenic | 0.9126 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.786 | deleterious | N | 0.486243809 | None | None | N |
| F/W | 0.9197 | likely_pathogenic | 0.9295 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| F/Y | 0.7102 | likely_pathogenic | 0.7209 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.602 | neutral | N | 0.493203385 | 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.