Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15549 | 46870;46871;46872 | chr2:178619672;178619671;178619670 | chr2:179484399;179484398;179484397 |
| N2AB | 13908 | 41947;41948;41949 | chr2:178619672;178619671;178619670 | chr2:179484399;179484398;179484397 |
| N2A | 12981 | 39166;39167;39168 | chr2:178619672;178619671;178619670 | chr2:179484399;179484398;179484397 |
| N2B | 6484 | 19675;19676;19677 | chr2:178619672;178619671;178619670 | chr2:179484399;179484398;179484397 |
| Novex-1 | 6609 | 20050;20051;20052 | chr2:178619672;178619671;178619670 | chr2:179484399;179484398;179484397 |
| Novex-2 | 6676 | 20251;20252;20253 | chr2:178619672;178619671;178619670 | chr2:179484399;179484398;179484397 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | None | None | 1.0 | D | 0.808 | 0.905 | 0.775651754127 | gnomAD-4.0.0 | 1.59465E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86477E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -2.172 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| Y/C | 0.9791 | likely_pathogenic | 0.9826 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.629437847 | None | None | N |
| Y/D | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -2.753 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.629437847 | None | None | N |
| Y/E | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.5 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| Y/F | 0.3527 | ambiguous | 0.3794 | ambiguous | -0.643 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | D | 0.598693906 | None | None | N |
| Y/G | 0.9957 | likely_pathogenic | 0.9964 | pathogenic | -2.63 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/H | 0.9918 | likely_pathogenic | 0.993 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.629600148 | None | None | N |
| Y/I | 0.9486 | likely_pathogenic | 0.9477 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| Y/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| Y/L | 0.9297 | likely_pathogenic | 0.9342 | pathogenic | -0.658 | Destabilizing | 0.999 | D | 0.756 | deleterious | None | None | None | None | N |
| Y/M | 0.9853 | likely_pathogenic | 0.9864 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| Y/N | 0.9925 | likely_pathogenic | 0.9943 | pathogenic | -2.701 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.629437847 | None | None | N |
| Y/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| Y/Q | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.238 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| Y/R | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -2.071 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/S | 0.9974 | likely_pathogenic | 0.9978 | pathogenic | -3.029 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.629437847 | None | None | N |
| Y/T | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -2.626 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/V | 0.9463 | likely_pathogenic | 0.9456 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| Y/W | 0.8936 | likely_pathogenic | 0.9012 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.796 | 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.