Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10103 | 30532;30533;30534 | chr2:178702580;178702579;178702578 | chr2:179567307;179567306;179567305 |
| N2AB | 9786 | 29581;29582;29583 | chr2:178702580;178702579;178702578 | chr2:179567307;179567306;179567305 |
| N2A | 8859 | 26800;26801;26802 | chr2:178702580;178702579;178702578 | chr2:179567307;179567306;179567305 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.999 | None | 0.543 | 0.539 | 0.335661160332 | gnomAD-4.0.0 | 6.84132E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99389E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9827 | likely_pathogenic | 0.9917 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| F/C | 0.9671 | likely_pathogenic | 0.986 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| F/D | 0.9933 | likely_pathogenic | 0.9965 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| F/E | 0.993 | likely_pathogenic | 0.9963 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| F/G | 0.9938 | likely_pathogenic | 0.9965 | pathogenic | -2.448 | Highly Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| F/H | 0.9506 | likely_pathogenic | 0.9709 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| F/I | 0.9688 | likely_pathogenic | 0.9861 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| F/K | 0.9945 | likely_pathogenic | 0.9971 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| F/L | 0.996 | likely_pathogenic | 0.9983 | pathogenic | -1.14 | Destabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | N |
| F/M | 0.9757 | likely_pathogenic | 0.9875 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| F/N | 0.9854 | likely_pathogenic | 0.9926 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| F/P | 0.9993 | likely_pathogenic | 0.9998 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | N |
| F/Q | 0.991 | likely_pathogenic | 0.9951 | pathogenic | -1.405 | Destabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | N |
| F/R | 0.9823 | likely_pathogenic | 0.9888 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| F/S | 0.9729 | likely_pathogenic | 0.9872 | pathogenic | -2.124 | Highly Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| F/T | 0.9859 | likely_pathogenic | 0.9932 | pathogenic | -1.948 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| F/V | 0.9451 | likely_pathogenic | 0.9728 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| F/W | 0.8782 | likely_pathogenic | 0.9199 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| F/Y | 0.6117 | likely_pathogenic | 0.7313 | pathogenic | -0.556 | Destabilizing | 0.999 | D | 0.601 | neutral | 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.