Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32062 | 96409;96410;96411 | chr2:178543960;178543959;178543958 | chr2:179408687;179408686;179408685 |
| N2AB | 30421 | 91486;91487;91488 | chr2:178543960;178543959;178543958 | chr2:179408687;179408686;179408685 |
| N2A | 29494 | 88705;88706;88707 | chr2:178543960;178543959;178543958 | chr2:179408687;179408686;179408685 |
| N2B | 22997 | 69214;69215;69216 | chr2:178543960;178543959;178543958 | chr2:179408687;179408686;179408685 |
| Novex-1 | 23122 | 69589;69590;69591 | chr2:178543960;178543959;178543958 | chr2:179408687;179408686;179408685 |
| Novex-2 | 23189 | 69790;69791;69792 | chr2:178543960;178543959;178543958 | chr2:179408687;179408686;179408685 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 0.333 | N | 0.173 | 0.093 | 0.313210971179 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85871E-06 | 0 | 0 |
| D/G | None | None | 0.994 | N | 0.542 | 0.567 | 0.414930877219 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85873E-06 | 0 | 0 |
| D/H | rs1695842509  |
None | 1.0 | N | 0.638 | 0.429 | 0.419835214384 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs1695842509 |
None | 1.0 | N | 0.638 | 0.429 | 0.419835214384 | gnomAD-4.0.0 | 6.57454E-06 | None | None | None | None | N | None | 0 | 6.54965E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.592 | likely_pathogenic | 0.5634 | ambiguous | -0.664 | Destabilizing | 0.989 | D | 0.57 | neutral | N | 0.516511224 | None | None | N |
| D/C | 0.947 | likely_pathogenic | 0.9383 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| D/E | 0.3134 | likely_benign | 0.3 | benign | -0.41 | Destabilizing | 0.333 | N | 0.173 | neutral | N | 0.397646613 | None | None | N |
| D/F | 0.9347 | likely_pathogenic | 0.9147 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/G | 0.6391 | likely_pathogenic | 0.6063 | pathogenic | -0.96 | Destabilizing | 0.994 | D | 0.542 | neutral | N | 0.486150537 | None | None | N |
| D/H | 0.6617 | likely_pathogenic | 0.6466 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.515396503 | None | None | N |
| D/I | 0.8236 | likely_pathogenic | 0.7915 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| D/K | 0.8256 | likely_pathogenic | 0.8079 | pathogenic | 0.01 | Stabilizing | 0.992 | D | 0.548 | neutral | None | None | None | None | N |
| D/L | 0.8379 | likely_pathogenic | 0.8121 | pathogenic | 0.106 | Stabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| D/M | 0.9174 | likely_pathogenic | 0.9029 | pathogenic | 0.415 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| D/N | 0.3018 | likely_benign | 0.2715 | benign | -0.557 | Destabilizing | 0.994 | D | 0.483 | neutral | N | 0.506334303 | None | None | N |
| D/P | 0.9886 | likely_pathogenic | 0.9859 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| D/Q | 0.6808 | likely_pathogenic | 0.6691 | pathogenic | -0.448 | Destabilizing | 0.998 | D | 0.537 | neutral | None | None | None | None | N |
| D/R | 0.826 | likely_pathogenic | 0.8097 | pathogenic | 0.24 | Stabilizing | 0.998 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/S | 0.3891 | ambiguous | 0.3594 | ambiguous | -0.718 | Destabilizing | 0.992 | D | 0.423 | neutral | None | None | None | None | N |
| D/T | 0.6167 | likely_pathogenic | 0.5949 | pathogenic | -0.464 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| D/V | 0.6521 | likely_pathogenic | 0.6088 | pathogenic | -0.128 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | N | 0.500773767 | None | None | N |
| D/W | 0.9848 | likely_pathogenic | 0.9806 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/Y | 0.6802 | likely_pathogenic | 0.634 | pathogenic | 0.089 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.495215891 | 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.