Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30795 | 92608;92609;92610 | chr2:178549243;178549242;178549241 | chr2:179413970;179413969;179413968 |
| N2AB | 29154 | 87685;87686;87687 | chr2:178549243;178549242;178549241 | chr2:179413970;179413969;179413968 |
| N2A | 28227 | 84904;84905;84906 | chr2:178549243;178549242;178549241 | chr2:179413970;179413969;179413968 |
| N2B | 21730 | 65413;65414;65415 | chr2:178549243;178549242;178549241 | chr2:179413970;179413969;179413968 |
| Novex-1 | 21855 | 65788;65789;65790 | chr2:178549243;178549242;178549241 | chr2:179413970;179413969;179413968 |
| Novex-2 | 21922 | 65989;65990;65991 | chr2:178549243;178549242;178549241 | chr2:179413970;179413969;179413968 |
| 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 | rs1415270216  |
-2.597 | 0.928 | D | 0.692 | 0.782 | 0.788476339101 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1415270216 |
-2.597 | 0.928 | D | 0.692 | 0.782 | 0.788476339101 | gnomAD-4.0.0 | 1.36836E-06 | None | None | None | None | N | None | 0 | 2.23644E-05 | None | 0 | 0 | None | 0 | 0 | 8.99421E-07 | 0 | 0 |
| V/I | rs369025866 |
-0.701 | 0.039 | N | 0.322 | 0.267 | None | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| V/I | rs369025866 |
-0.701 | 0.039 | N | 0.322 | 0.267 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs369025866 |
-0.701 | 0.039 | N | 0.322 | 0.267 | None | gnomAD-4.0.0 | 9.29489E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27134E-05 | 0 | 0 |
| V/L | rs369025866 |
None | 0.476 | N | 0.646 | 0.568 | 0.657895878264 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| V/L | rs369025866 |
None | 0.476 | N | 0.646 | 0.568 | 0.657895878264 | gnomAD-4.0.0 | 1.23932E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09786E-05 | 1.60108E-05 |
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 | 0.6932 | likely_pathogenic | 0.7465 | pathogenic | -2.48 | Highly Destabilizing | 0.928 | D | 0.692 | prob.neutral | D | 0.562354489 | None | None | N |
| V/C | 0.93 | likely_pathogenic | 0.9358 | pathogenic | -2.139 | Highly Destabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| V/D | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -3.306 | Highly Destabilizing | 0.996 | D | 0.907 | deleterious | D | 0.663844034 | None | None | N |
| V/E | 0.9943 | likely_pathogenic | 0.9944 | pathogenic | -3.028 | Highly Destabilizing | 0.997 | D | 0.909 | deleterious | None | None | None | None | N |
| V/F | 0.9578 | likely_pathogenic | 0.9566 | pathogenic | -1.132 | Destabilizing | 0.978 | D | 0.879 | deleterious | D | 0.565481588 | None | None | N |
| V/G | 0.9061 | likely_pathogenic | 0.9204 | pathogenic | -3.008 | Highly Destabilizing | 0.989 | D | 0.915 | deleterious | D | 0.663844034 | None | None | N |
| V/H | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -2.715 | Highly Destabilizing | 0.999 | D | 0.894 | deleterious | None | None | None | None | N |
| V/I | 0.1308 | likely_benign | 0.1229 | benign | -0.938 | Destabilizing | 0.039 | N | 0.322 | neutral | N | 0.49279049 | None | None | N |
| V/K | 0.9963 | likely_pathogenic | 0.9964 | pathogenic | -1.928 | Destabilizing | 0.992 | D | 0.909 | deleterious | None | None | None | None | N |
| V/L | 0.7563 | likely_pathogenic | 0.7591 | pathogenic | -0.938 | Destabilizing | 0.476 | N | 0.646 | neutral | N | 0.514190109 | None | None | N |
| V/M | 0.8297 | likely_pathogenic | 0.8395 | pathogenic | -1.377 | Destabilizing | 0.983 | D | 0.825 | deleterious | None | None | None | None | N |
| V/N | 0.9921 | likely_pathogenic | 0.9917 | pathogenic | -2.5 | Highly Destabilizing | 0.997 | D | 0.911 | deleterious | None | None | None | None | N |
| V/P | 0.9958 | likely_pathogenic | 0.9953 | pathogenic | -1.437 | Destabilizing | 0.997 | D | 0.904 | deleterious | None | None | None | None | N |
| V/Q | 0.9927 | likely_pathogenic | 0.9929 | pathogenic | -2.18 | Highly Destabilizing | 0.997 | D | 0.906 | deleterious | None | None | None | None | N |
| V/R | 0.9892 | likely_pathogenic | 0.9896 | pathogenic | -1.922 | Destabilizing | 0.997 | D | 0.913 | deleterious | None | None | None | None | N |
| V/S | 0.9367 | likely_pathogenic | 0.9452 | pathogenic | -2.985 | Highly Destabilizing | 0.992 | D | 0.911 | deleterious | None | None | None | None | N |
| V/T | 0.8615 | likely_pathogenic | 0.8779 | pathogenic | -2.578 | Highly Destabilizing | 0.944 | D | 0.764 | deleterious | None | None | None | None | N |
| V/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.685 | Destabilizing | 0.999 | D | 0.888 | deleterious | None | None | None | None | N |
| V/Y | 0.9959 | likely_pathogenic | 0.9958 | pathogenic | -1.502 | Destabilizing | 0.992 | D | 0.874 | 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.