Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28259 | 85000;85001;85002 | chr2:178561357;178561356;178561355 | chr2:179426084;179426083;179426082 |
| N2AB | 26618 | 80077;80078;80079 | chr2:178561357;178561356;178561355 | chr2:179426084;179426083;179426082 |
| N2A | 25691 | 77296;77297;77298 | chr2:178561357;178561356;178561355 | chr2:179426084;179426083;179426082 |
| N2B | 19194 | 57805;57806;57807 | chr2:178561357;178561356;178561355 | chr2:179426084;179426083;179426082 |
| Novex-1 | 19319 | 58180;58181;58182 | chr2:178561357;178561356;178561355 | chr2:179426084;179426083;179426082 |
| Novex-2 | 19386 | 58381;58382;58383 | chr2:178561357;178561356;178561355 | chr2:179426084;179426083;179426082 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 0.994 | N | 0.715 | 0.471 | 0.361360026772 | gnomAD-4.0.0 | 6.842E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99462E-07 | 0 | 0 |
| P/L | None | None | 0.217 | N | 0.524 | 0.218 | 0.361758802978 | gnomAD-4.0.0 | 6.842E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99457E-07 | 0 | 0 |
| P/R | None | None | 0.999 | D | 0.873 | 0.415 | 0.594874987132 | gnomAD-4.0.0 | 1.3684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79891E-06 | 0 | 0 |
| P/S | rs1264580282  |
-1.626 | 0.999 | D | 0.809 | 0.442 | 0.453679287548 | 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 |
| P/S | rs1264580282 |
-1.626 | 0.999 | D | 0.809 | 0.442 | 0.453679287548 | gnomAD-4.0.0 | 6.842E-07 | None | None | None | None | N | None | 0 | 2.23604E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 0.998 | D | 0.813 | 0.458 | 0.631643887469 | gnomAD-4.0.0 | 6.842E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99462E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6606 | likely_pathogenic | 0.6889 | pathogenic | -2.034 | Highly Destabilizing | 0.994 | D | 0.715 | prob.delet. | N | 0.505362022 | None | None | N |
| P/C | 0.9388 | likely_pathogenic | 0.9499 | pathogenic | -1.987 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -2.875 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/E | 0.9958 | likely_pathogenic | 0.9966 | pathogenic | -2.716 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/F | 0.9902 | likely_pathogenic | 0.9937 | pathogenic | -1.245 | Destabilizing | 0.998 | D | 0.89 | deleterious | None | None | None | None | N |
| P/G | 0.9809 | likely_pathogenic | 0.9849 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/H | 0.9951 | likely_pathogenic | 0.9963 | pathogenic | -2.126 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.54735743 | None | None | N |
| P/I | 0.638 | likely_pathogenic | 0.6946 | pathogenic | -0.747 | Destabilizing | 0.995 | D | 0.827 | deleterious | None | None | None | None | N |
| P/K | 0.9961 | likely_pathogenic | 0.9968 | pathogenic | -1.646 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/L | 0.3622 | ambiguous | 0.4115 | ambiguous | -0.747 | Destabilizing | 0.217 | N | 0.524 | neutral | N | 0.468945698 | None | None | N |
| P/M | 0.8305 | likely_pathogenic | 0.8792 | pathogenic | -1.018 | Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| P/N | 0.997 | likely_pathogenic | 0.9976 | pathogenic | -1.905 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Q | 0.9905 | likely_pathogenic | 0.9927 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/R | 0.9925 | likely_pathogenic | 0.9934 | pathogenic | -1.377 | Destabilizing | 0.999 | D | 0.873 | deleterious | D | 0.54735743 | None | None | N |
| P/S | 0.9794 | likely_pathogenic | 0.9833 | pathogenic | -2.472 | Highly Destabilizing | 0.999 | D | 0.809 | deleterious | D | 0.535747635 | None | None | N |
| P/T | 0.8695 | likely_pathogenic | 0.8974 | pathogenic | -2.182 | Highly Destabilizing | 0.998 | D | 0.813 | deleterious | D | 0.546850451 | None | None | N |
| P/V | 0.4602 | ambiguous | 0.5082 | ambiguous | -1.148 | Destabilizing | 0.983 | D | 0.784 | deleterious | None | None | None | None | N |
| P/W | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/Y | 0.9968 | likely_pathogenic | 0.9979 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.893 | 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.