Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31482 | 94669;94670;94671 | chr2:178547081;178547080;178547079 | chr2:179411808;179411807;179411806 |
| N2AB | 29841 | 89746;89747;89748 | chr2:178547081;178547080;178547079 | chr2:179411808;179411807;179411806 |
| N2A | 28914 | 86965;86966;86967 | chr2:178547081;178547080;178547079 | chr2:179411808;179411807;179411806 |
| N2B | 22417 | 67474;67475;67476 | chr2:178547081;178547080;178547079 | chr2:179411808;179411807;179411806 |
| Novex-1 | 22542 | 67849;67850;67851 | chr2:178547081;178547080;178547079 | chr2:179411808;179411807;179411806 |
| Novex-2 | 22609 | 68050;68051;68052 | chr2:178547081;178547080;178547079 | chr2:179411808;179411807;179411806 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/T | None | None | 1.0 | N | 0.729 | 0.58 | 0.774597630533 | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85855E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9969 | likely_pathogenic | 0.9955 | pathogenic | -2.124 | Highly Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| R/C | 0.8677 | likely_pathogenic | 0.8043 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| R/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| R/E | 0.9951 | likely_pathogenic | 0.994 | pathogenic | -0.754 | Destabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | N |
| R/F | 0.998 | likely_pathogenic | 0.9975 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| R/G | 0.9969 | likely_pathogenic | 0.996 | pathogenic | -2.459 | Highly Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.546413286 | None | None | N |
| R/H | 0.7934 | likely_pathogenic | 0.7349 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| R/I | 0.9909 | likely_pathogenic | 0.9885 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.535056981 | None | None | N |
| R/K | 0.6689 | likely_pathogenic | 0.6375 | pathogenic | -1.384 | Destabilizing | 0.997 | D | 0.647 | neutral | N | 0.498035096 | None | None | N |
| R/L | 0.9825 | likely_pathogenic | 0.9781 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| R/M | 0.9941 | likely_pathogenic | 0.9921 | pathogenic | -1.594 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| R/N | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -1.303 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| R/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| R/Q | 0.7482 | likely_pathogenic | 0.6919 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| R/S | 0.998 | likely_pathogenic | 0.9972 | pathogenic | -2.26 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.543117922 | None | None | N |
| R/T | 0.9975 | likely_pathogenic | 0.996 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.49730108 | None | None | N |
| R/V | 0.9919 | likely_pathogenic | 0.9891 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/W | 0.9718 | likely_pathogenic | 0.9653 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/Y | 0.9925 | likely_pathogenic | 0.9896 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.829 | 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.