Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14499 | 43720;43721;43722 | chr2:178632399;178632398;178632397 | chr2:179497126;179497125;179497124 |
| N2AB | 12858 | 38797;38798;38799 | chr2:178632399;178632398;178632397 | chr2:179497126;179497125;179497124 |
| N2A | 11931 | 36016;36017;36018 | chr2:178632399;178632398;178632397 | chr2:179497126;179497125;179497124 |
| N2B | 5434 | 16525;16526;16527 | chr2:178632399;178632398;178632397 | chr2:179497126;179497125;179497124 |
| Novex-1 | 5559 | 16900;16901;16902 | chr2:178632399;178632398;178632397 | chr2:179497126;179497125;179497124 |
| Novex-2 | 5626 | 17101;17102;17103 | chr2:178632399;178632398;178632397 | chr2:179497126;179497125;179497124 |
| 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 | rs754004380  |
-1.827 | 0.999 | D | 0.619 | 0.674 | 0.374613414588 | gnomAD-4.0.0 | 3.30061E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.87478E-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 | 0.9807 | likely_pathogenic | 0.9798 | pathogenic | -2.642 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/C | 0.9278 | likely_pathogenic | 0.8938 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.684905522 | None | None | N |
| F/D | 0.993 | likely_pathogenic | 0.9941 | pathogenic | -2.052 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/E | 0.9934 | likely_pathogenic | 0.9941 | pathogenic | -1.891 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| F/G | 0.9914 | likely_pathogenic | 0.9918 | pathogenic | -3.051 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/H | 0.9705 | likely_pathogenic | 0.969 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/I | 0.5312 | ambiguous | 0.4734 | ambiguous | -1.349 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.516668228 | None | None | N |
| F/K | 0.9944 | likely_pathogenic | 0.9947 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| F/L | 0.9694 | likely_pathogenic | 0.9642 | pathogenic | -1.349 | Destabilizing | 0.999 | D | 0.619 | neutral | D | 0.616263799 | None | None | N |
| F/M | 0.8786 | likely_pathogenic | 0.8626 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| F/N | 0.9747 | likely_pathogenic | 0.9749 | pathogenic | -1.89 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/P | 0.9953 | likely_pathogenic | 0.9954 | pathogenic | -1.784 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/Q | 0.9918 | likely_pathogenic | 0.9919 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| F/R | 0.9907 | likely_pathogenic | 0.9905 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| F/S | 0.9732 | likely_pathogenic | 0.9748 | pathogenic | -2.679 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.684442796 | None | None | N |
| F/T | 0.9745 | likely_pathogenic | 0.9753 | pathogenic | -2.419 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/V | 0.6979 | likely_pathogenic | 0.6427 | pathogenic | -1.784 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.563821209 | None | None | N |
| F/W | 0.8527 | likely_pathogenic | 0.8504 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/Y | 0.4684 | ambiguous | 0.4123 | ambiguous | -0.565 | Destabilizing | 0.999 | D | 0.572 | neutral | D | 0.684531978 | 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.