Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7879 | 23860;23861;23862 | chr2:178720007;178720006;178720005 | chr2:179584734;179584733;179584732 |
| N2AB | 7562 | 22909;22910;22911 | chr2:178720007;178720006;178720005 | chr2:179584734;179584733;179584732 |
| N2A | 6635 | 20128;20129;20130 | chr2:178720007;178720006;178720005 | chr2:179584734;179584733;179584732 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 1.0 | N | 0.905 | 0.478 | 0.830345050807 | gnomAD-4.0.0 | 1.59794E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8703E-06 | 0 | 0 |
| C/W | rs756600411  |
-1.451 | 1.0 | N | 0.879 | 0.498 | 0.715633265667 | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.32196E-04 | None | 0 | 0 | 0 |
| C/W | rs756600411 |
-1.451 | 1.0 | N | 0.879 | 0.498 | 0.715633265667 | gnomAD-4.0.0 | 1.27795E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15128E-04 | 0 |
| C/Y | rs2078102033 |
None | 1.0 | N | 0.904 | 0.467 | 0.793556179545 | gnomAD-4.0.0 | 1.59794E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8703E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5287 | ambiguous | 0.5276 | ambiguous | -1.959 | Destabilizing | 0.997 | D | 0.603 | neutral | None | None | None | None | N |
| C/D | 0.8629 | likely_pathogenic | 0.8364 | pathogenic | -0.574 | Destabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | None | N |
| C/E | 0.9537 | likely_pathogenic | 0.9502 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| C/F | 0.5955 | likely_pathogenic | 0.5731 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.905 | deleterious | N | 0.514597139 | None | None | N |
| C/G | 0.301 | likely_benign | 0.293 | benign | -2.304 | Highly Destabilizing | 0.999 | D | 0.842 | deleterious | N | 0.519370079 | None | None | N |
| C/H | 0.8843 | likely_pathogenic | 0.8405 | pathogenic | -2.151 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| C/I | 0.7845 | likely_pathogenic | 0.7815 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| C/K | 0.9838 | likely_pathogenic | 0.9823 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| C/L | 0.7909 | likely_pathogenic | 0.7831 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| C/M | 0.8106 | likely_pathogenic | 0.8012 | pathogenic | 0.128 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| C/N | 0.6339 | likely_pathogenic | 0.4501 | ambiguous | -1.25 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| C/P | 0.9973 | likely_pathogenic | 0.9975 | pathogenic | -1.322 | Destabilizing | 0.999 | D | 0.904 | deleterious | None | None | None | None | N |
| C/Q | 0.9145 | likely_pathogenic | 0.9008 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| C/R | 0.9245 | likely_pathogenic | 0.9233 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.905 | deleterious | N | 0.493263653 | None | None | N |
| C/S | 0.2939 | likely_benign | 0.2557 | benign | -1.8 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.494114367 | None | None | N |
| C/T | 0.4741 | ambiguous | 0.4649 | ambiguous | -1.446 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| C/V | 0.6591 | likely_pathogenic | 0.6542 | pathogenic | -1.322 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| C/W | 0.9022 | likely_pathogenic | 0.8757 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.520130548 | None | None | N |
| C/Y | 0.733 | likely_pathogenic | 0.6558 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.904 | deleterious | N | 0.505633917 | 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.