Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14790 | 44593;44594;44595 | chr2:178629357;178629356;178629355 | chr2:179494084;179494083;179494082 |
| N2AB | 13149 | 39670;39671;39672 | chr2:178629357;178629356;178629355 | chr2:179494084;179494083;179494082 |
| N2A | 12222 | 36889;36890;36891 | chr2:178629357;178629356;178629355 | chr2:179494084;179494083;179494082 |
| N2B | 5725 | 17398;17399;17400 | chr2:178629357;178629356;178629355 | chr2:179494084;179494083;179494082 |
| Novex-1 | 5850 | 17773;17774;17775 | chr2:178629357;178629356;178629355 | chr2:179494084;179494083;179494082 |
| Novex-2 | 5917 | 17974;17975;17976 | chr2:178629357;178629356;178629355 | chr2:179494084;179494083;179494082 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs762712953  |
0.615 | 1.0 | N | 0.725 | 0.446 | 0.413635276047 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 5.67E-05 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 2.35E-05 | 0 |
| E/K | rs762712953 |
0.615 | 1.0 | N | 0.725 | 0.446 | 0.413635276047 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 4.79386E-04 |
| E/K | rs762712953 |
0.615 | 1.0 | N | 0.725 | 0.446 | 0.413635276047 | gnomAD-4.0.0 | 8.6807E-06 | None | None | None | None | N | None | 1.33586E-05 | 3.33578E-05 | None | 0 | 0 | None | 0 | 0 | 6.78357E-06 | 2.1966E-05 | 1.60246E-05 |
| E/Q | rs762712953 |
None | 1.0 | D | 0.691 | 0.439 | 0.39619538035 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94326E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs762712953 |
None | 1.0 | D | 0.691 | 0.439 | 0.39619538035 | gnomAD-4.0.0 | 6.57609E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.94326E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.201 | likely_benign | 0.2172 | benign | -0.531 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | N | 0.510125001 | None | None | N |
| E/C | 0.9385 | likely_pathogenic | 0.9492 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| E/D | 0.2304 | likely_benign | 0.241 | benign | -0.477 | Destabilizing | 0.999 | D | 0.537 | neutral | N | 0.49887892 | None | None | N |
| E/F | 0.9281 | likely_pathogenic | 0.9407 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| E/G | 0.2209 | likely_benign | 0.2474 | benign | -0.759 | Destabilizing | 1.0 | D | 0.67 | neutral | N | 0.513388624 | None | None | N |
| E/H | 0.6711 | likely_pathogenic | 0.7108 | pathogenic | 0.023 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| E/I | 0.6613 | likely_pathogenic | 0.6923 | pathogenic | 0.051 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| E/K | 0.1863 | likely_benign | 0.2118 | benign | 0.193 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.511350318 | None | None | N |
| E/L | 0.6631 | likely_pathogenic | 0.6982 | pathogenic | 0.051 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| E/M | 0.6989 | likely_pathogenic | 0.7298 | pathogenic | 0.132 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| E/N | 0.4746 | ambiguous | 0.5022 | ambiguous | -0.259 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/P | 0.5236 | ambiguous | 0.5438 | ambiguous | -0.123 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| E/Q | 0.1901 | likely_benign | 0.209 | benign | -0.202 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.554601144 | None | None | N |
| E/R | 0.3221 | likely_benign | 0.3682 | ambiguous | 0.485 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/S | 0.2958 | likely_benign | 0.3076 | benign | -0.419 | Destabilizing | 0.999 | D | 0.752 | deleterious | None | None | None | None | N |
| E/T | 0.3678 | ambiguous | 0.3901 | ambiguous | -0.225 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| E/V | 0.425 | ambiguous | 0.4575 | ambiguous | -0.123 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.538121633 | None | None | N |
| E/W | 0.9639 | likely_pathogenic | 0.9731 | pathogenic | 0.004 | Stabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| E/Y | 0.8503 | likely_pathogenic | 0.8786 | pathogenic | 0.038 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | 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.