Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32876 | 98851;98852;98853 | chr2:178539439;178539438;178539437 | chr2:179404166;179404165;179404164 |
| N2AB | 31235 | 93928;93929;93930 | chr2:178539439;178539438;178539437 | chr2:179404166;179404165;179404164 |
| N2A | 30308 | 91147;91148;91149 | chr2:178539439;178539438;178539437 | chr2:179404166;179404165;179404164 |
| N2B | 23811 | 71656;71657;71658 | chr2:178539439;178539438;178539437 | chr2:179404166;179404165;179404164 |
| Novex-1 | 23936 | 72031;72032;72033 | chr2:178539439;178539438;178539437 | chr2:179404166;179404165;179404164 |
| Novex-2 | 24003 | 72232;72233;72234 | chr2:178539439;178539438;178539437 | chr2:179404166;179404165;179404164 |
| 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/C | rs764169875  |
None | 1.0 | N | 0.793 | 0.483 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/C | rs764169875 |
None | 1.0 | N | 0.793 | 0.483 | None | gnomAD-4.0.0 | 1.23939E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6952E-06 | 0 | 0 |
| F/S | rs764169875 |
-0.904 | 1.0 | N | 0.771 | 0.498 | 0.566228512615 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| F/S | rs764169875 |
-0.904 | 1.0 | N | 0.771 | 0.498 | 0.566228512615 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| F/S | rs764169875 |
-0.904 | 1.0 | N | 0.771 | 0.498 | 0.566228512615 | gnomAD-4.0.0 | 3.71817E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.0856E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.961 | likely_pathogenic | 0.9285 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| F/C | 0.8657 | likely_pathogenic | 0.7602 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.477056254 | None | None | I |
| F/D | 0.9862 | likely_pathogenic | 0.9785 | pathogenic | 0.805 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| F/E | 0.9897 | likely_pathogenic | 0.9823 | pathogenic | 0.771 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| F/G | 0.9842 | likely_pathogenic | 0.974 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| F/H | 0.858 | likely_pathogenic | 0.8139 | pathogenic | 0.306 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| F/I | 0.8532 | likely_pathogenic | 0.7222 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.410388544 | None | None | I |
| F/K | 0.9919 | likely_pathogenic | 0.9858 | pathogenic | 0.027 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| F/L | 0.99 | likely_pathogenic | 0.9809 | pathogenic | -0.413 | Destabilizing | 0.999 | D | 0.545 | neutral | N | 0.463876313 | None | None | I |
| F/M | 0.9338 | likely_pathogenic | 0.8848 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| F/N | 0.9201 | likely_pathogenic | 0.8987 | pathogenic | 0.068 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| F/P | 0.9993 | likely_pathogenic | 0.9987 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| F/Q | 0.9788 | likely_pathogenic | 0.964 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| F/R | 0.9773 | likely_pathogenic | 0.9616 | pathogenic | 0.483 | Stabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| F/S | 0.9361 | likely_pathogenic | 0.8906 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.482750075 | None | None | I |
| F/T | 0.956 | likely_pathogenic | 0.9222 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| F/V | 0.8312 | likely_pathogenic | 0.712 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.415274289 | None | None | I |
| F/W | 0.6973 | likely_pathogenic | 0.6422 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| F/Y | 0.2157 | likely_benign | 0.184 | benign | -0.239 | Destabilizing | 0.999 | D | 0.522 | neutral | N | 0.380548427 | None | None | I |
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.