Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20162 | 60709;60710;60711 | chr2:178591241;178591240;178591239 | chr2:179455968;179455967;179455966 |
| N2AB | 18521 | 55786;55787;55788 | chr2:178591241;178591240;178591239 | chr2:179455968;179455967;179455966 |
| N2A | 17594 | 53005;53006;53007 | chr2:178591241;178591240;178591239 | chr2:179455968;179455967;179455966 |
| N2B | 11097 | 33514;33515;33516 | chr2:178591241;178591240;178591239 | chr2:179455968;179455967;179455966 |
| Novex-1 | 11222 | 33889;33890;33891 | chr2:178591241;178591240;178591239 | chr2:179455968;179455967;179455966 |
| Novex-2 | 11289 | 34090;34091;34092 | chr2:178591241;178591240;178591239 | chr2:179455968;179455967;179455966 |
| 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/A | rs1268857249  |
None | 0.002 | N | 0.35 | 0.19 | 0.300449992093 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93874E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1268857249 |
None | 0.002 | N | 0.35 | 0.19 | 0.300449992093 | gnomAD-4.0.0 | 6.57592E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93874E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs371574493 |
-0.277 | 0.429 | D | 0.578 | 0.27 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| V/I | rs371574493 |
-0.277 | 0.429 | D | 0.578 | 0.27 | None | gnomAD-4.0.0 | 3.18428E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71961E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1227 | likely_benign | 0.1441 | benign | -1.159 | Destabilizing | 0.002 | N | 0.35 | neutral | N | 0.420886045 | None | None | N |
| V/C | 0.7753 | likely_pathogenic | 0.7963 | pathogenic | -1.095 | Destabilizing | 0.985 | D | 0.723 | prob.delet. | None | None | None | None | N |
| V/D | 0.6612 | likely_pathogenic | 0.7306 | pathogenic | -0.745 | Destabilizing | 0.894 | D | 0.799 | deleterious | None | None | None | None | N |
| V/E | 0.4676 | ambiguous | 0.5451 | ambiguous | -0.723 | Destabilizing | 0.864 | D | 0.712 | prob.delet. | N | 0.52010889 | None | None | N |
| V/F | 0.26 | likely_benign | 0.2937 | benign | -0.768 | Destabilizing | 0.945 | D | 0.747 | deleterious | None | None | None | None | N |
| V/G | 0.3758 | ambiguous | 0.4272 | ambiguous | -1.479 | Destabilizing | 0.477 | N | 0.709 | prob.delet. | N | 0.505968943 | None | None | N |
| V/H | 0.7258 | likely_pathogenic | 0.7819 | pathogenic | -0.861 | Destabilizing | 0.995 | D | 0.795 | deleterious | None | None | None | None | N |
| V/I | 0.0983 | likely_benign | 0.0999 | benign | -0.387 | Destabilizing | 0.429 | N | 0.578 | neutral | D | 0.524650705 | None | None | N |
| V/K | 0.5219 | ambiguous | 0.6027 | pathogenic | -1.029 | Destabilizing | 0.894 | D | 0.726 | prob.delet. | None | None | None | None | N |
| V/L | 0.2907 | likely_benign | 0.2982 | benign | -0.387 | Destabilizing | 0.273 | N | 0.592 | neutral | D | 0.522591834 | None | None | N |
| V/M | 0.1688 | likely_benign | 0.1768 | benign | -0.538 | Destabilizing | 0.945 | D | 0.669 | neutral | None | None | None | None | N |
| V/N | 0.5289 | ambiguous | 0.5973 | pathogenic | -0.949 | Destabilizing | 0.945 | D | 0.823 | deleterious | None | None | None | None | N |
| V/P | 0.9575 | likely_pathogenic | 0.9669 | pathogenic | -0.608 | Destabilizing | 0.945 | D | 0.754 | deleterious | None | None | None | None | N |
| V/Q | 0.4841 | ambiguous | 0.5511 | ambiguous | -1.025 | Destabilizing | 0.945 | D | 0.787 | deleterious | None | None | None | None | N |
| V/R | 0.5103 | ambiguous | 0.5942 | pathogenic | -0.589 | Destabilizing | 0.894 | D | 0.817 | deleterious | None | None | None | None | N |
| V/S | 0.2739 | likely_benign | 0.3356 | benign | -1.505 | Destabilizing | 0.547 | D | 0.652 | neutral | None | None | None | None | N |
| V/T | 0.1568 | likely_benign | 0.18 | benign | -1.349 | Destabilizing | 0.547 | D | 0.599 | neutral | None | None | None | None | N |
| V/W | 0.9169 | likely_pathogenic | 0.9285 | pathogenic | -0.92 | Destabilizing | 0.995 | D | 0.748 | deleterious | None | None | None | None | N |
| V/Y | 0.7188 | likely_pathogenic | 0.7529 | pathogenic | -0.625 | Destabilizing | 0.981 | D | 0.752 | 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.