Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18540 | 55843;55844;55845 | chr2:178601379;178601378;178601377 | chr2:179466106;179466105;179466104 |
| N2AB | 16899 | 50920;50921;50922 | chr2:178601379;178601378;178601377 | chr2:179466106;179466105;179466104 |
| N2A | 15972 | 48139;48140;48141 | chr2:178601379;178601378;178601377 | chr2:179466106;179466105;179466104 |
| N2B | 9475 | 28648;28649;28650 | chr2:178601379;178601378;178601377 | chr2:179466106;179466105;179466104 |
| Novex-1 | 9600 | 29023;29024;29025 | chr2:178601379;178601378;178601377 | chr2:179466106;179466105;179466104 |
| Novex-2 | 9667 | 29224;29225;29226 | chr2:178601379;178601378;178601377 | chr2:179466106;179466105;179466104 |
| 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 | rs779623773  |
-2.158 | 0.977 | N | 0.654 | 0.441 | 0.696702113953 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.92E-05 | 0 |
| V/A | rs779623773 |
-2.158 | 0.977 | N | 0.654 | 0.441 | 0.696702113953 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/A | rs779623773 |
-2.158 | 0.977 | N | 0.654 | 0.441 | 0.696702113953 | gnomAD-4.0.0 | 1.30222E-05 | None | None | None | None | N | None | 2.67158E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61113E-05 | 0 | 0 |
| V/L | rs2053409641 |
None | 0.898 | N | 0.628 | 0.167 | 0.565391359567 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 | 0.8315 | likely_pathogenic | 0.8978 | pathogenic | -1.801 | Destabilizing | 0.977 | D | 0.654 | neutral | N | 0.509424962 | None | None | N |
| V/C | 0.9397 | likely_pathogenic | 0.955 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/D | 0.9952 | likely_pathogenic | 0.9972 | pathogenic | -2.762 | Highly Destabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | None | N |
| V/E | 0.9844 | likely_pathogenic | 0.9898 | pathogenic | -2.476 | Highly Destabilizing | 0.999 | D | 0.841 | deleterious | D | 0.538339118 | None | None | N |
| V/F | 0.7504 | likely_pathogenic | 0.8709 | pathogenic | -1.089 | Destabilizing | 0.995 | D | 0.825 | deleterious | None | None | None | None | N |
| V/G | 0.9541 | likely_pathogenic | 0.973 | pathogenic | -2.38 | Highly Destabilizing | 0.999 | D | 0.848 | deleterious | D | 0.526982813 | None | None | N |
| V/H | 0.9929 | likely_pathogenic | 0.9961 | pathogenic | -2.34 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/I | 0.0728 | likely_benign | 0.0813 | benign | -0.156 | Destabilizing | 0.15 | N | 0.232 | neutral | None | None | None | None | N |
| V/K | 0.9886 | likely_pathogenic | 0.9935 | pathogenic | -1.571 | Destabilizing | 0.998 | D | 0.843 | deleterious | None | None | None | None | N |
| V/L | 0.4905 | ambiguous | 0.602 | pathogenic | -0.156 | Destabilizing | 0.898 | D | 0.628 | neutral | N | 0.501143835 | None | None | N |
| V/M | 0.6409 | likely_pathogenic | 0.7477 | pathogenic | -0.249 | Destabilizing | 0.993 | D | 0.761 | deleterious | N | 0.505902817 | None | None | N |
| V/N | 0.9832 | likely_pathogenic | 0.9902 | pathogenic | -2.127 | Highly Destabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | None | N |
| V/P | 0.9796 | likely_pathogenic | 0.9879 | pathogenic | -0.68 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| V/Q | 0.9816 | likely_pathogenic | 0.9886 | pathogenic | -1.832 | Destabilizing | 0.999 | D | 0.899 | deleterious | None | None | None | None | N |
| V/R | 0.9829 | likely_pathogenic | 0.9901 | pathogenic | -1.672 | Destabilizing | 0.999 | D | 0.893 | deleterious | None | None | None | None | N |
| V/S | 0.9477 | likely_pathogenic | 0.9695 | pathogenic | -2.664 | Highly Destabilizing | 0.998 | D | 0.843 | deleterious | None | None | None | None | N |
| V/T | 0.8859 | likely_pathogenic | 0.9293 | pathogenic | -2.214 | Highly Destabilizing | 0.983 | D | 0.702 | prob.neutral | None | None | None | None | N |
| V/W | 0.9954 | likely_pathogenic | 0.9983 | pathogenic | -1.691 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/Y | 0.975 | likely_pathogenic | 0.9881 | pathogenic | -1.219 | Destabilizing | 0.999 | D | 0.823 | 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.