Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17171 | 51736;51737;51738 | chr2:178609912;178609911;178609910 | chr2:179474639;179474638;179474637 |
| N2AB | 15530 | 46813;46814;46815 | chr2:178609912;178609911;178609910 | chr2:179474639;179474638;179474637 |
| N2A | 14603 | 44032;44033;44034 | chr2:178609912;178609911;178609910 | chr2:179474639;179474638;179474637 |
| N2B | 8106 | 24541;24542;24543 | chr2:178609912;178609911;178609910 | chr2:179474639;179474638;179474637 |
| Novex-1 | 8231 | 24916;24917;24918 | chr2:178609912;178609911;178609910 | chr2:179474639;179474638;179474637 |
| Novex-2 | 8298 | 25117;25118;25119 | chr2:178609912;178609911;178609910 | chr2:179474639;179474638;179474637 |
| 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/L | rs770226870  |
-0.768 | 1.0 | D | 0.893 | 0.685 | 0.910375148093 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs770226870 |
-0.768 | 1.0 | D | 0.893 | 0.685 | 0.910375148093 | gnomAD-4.0.0 | 3.18577E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.5534E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs773302755 |
-2.79 | 1.0 | D | 0.851 | 0.662 | 0.674262823506 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| P/S | rs773302755 |
-2.79 | 1.0 | D | 0.851 | 0.662 | 0.674262823506 | gnomAD-4.0.0 | 5.47608E-06 | None | None | None | None | N | None | 0 | 6.71081E-05 | None | 0 | 0 | None | 0 | 0 | 4.49901E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9607 | likely_pathogenic | 0.9344 | pathogenic | -2.203 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.590651448 | None | None | N |
| P/C | 0.9956 | likely_pathogenic | 0.9935 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.96 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/E | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -2.805 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/G | 0.9954 | likely_pathogenic | 0.9927 | pathogenic | -2.674 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/H | 0.9988 | likely_pathogenic | 0.9981 | pathogenic | -2.48 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.616794973 | None | None | N |
| P/I | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/K | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/L | 0.9934 | likely_pathogenic | 0.9891 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.603945554 | None | None | N |
| P/M | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/N | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -2.193 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/Q | 0.999 | likely_pathogenic | 0.9981 | pathogenic | -2.147 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/R | 0.9981 | likely_pathogenic | 0.9969 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.604752771 | None | None | N |
| P/S | 0.9928 | likely_pathogenic | 0.9878 | pathogenic | -2.704 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.558905612 | None | None | N |
| P/T | 0.995 | likely_pathogenic | 0.992 | pathogenic | -2.434 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.600372003 | None | None | N |
| P/V | 0.995 | likely_pathogenic | 0.9921 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.968 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.634 | Destabilizing | 1.0 | D | 0.882 | 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.