Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26511 | 79756;79757;79758 | chr2:178566601;178566600;178566599 | chr2:179431328;179431327;179431326 |
| N2AB | 24870 | 74833;74834;74835 | chr2:178566601;178566600;178566599 | chr2:179431328;179431327;179431326 |
| N2A | 23943 | 72052;72053;72054 | chr2:178566601;178566600;178566599 | chr2:179431328;179431327;179431326 |
| N2B | 17446 | 52561;52562;52563 | chr2:178566601;178566600;178566599 | chr2:179431328;179431327;179431326 |
| Novex-1 | 17571 | 52936;52937;52938 | chr2:178566601;178566600;178566599 | chr2:179431328;179431327;179431326 |
| Novex-2 | 17638 | 53137;53138;53139 | chr2:178566601;178566600;178566599 | chr2:179431328;179431327;179431326 |
| 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 | rs1298988924  |
-0.6 | 1.0 | D | 0.897 | 0.766 | 0.91646365068 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.02512E-04 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1298988924 |
-0.6 | 1.0 | D | 0.897 | 0.766 | 0.91646365068 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93349E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1298988924 |
-0.6 | 1.0 | D | 0.897 | 0.766 | 0.91646365068 | gnomAD-4.0.0 | 1.24042E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.45831E-05 | None | 0 | 0 | 0 | 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 | 0.894 | likely_pathogenic | 0.846 | pathogenic | -1.96 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.613469639 | None | None | N |
| P/C | 0.991 | likely_pathogenic | 0.9872 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/D | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -2.313 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/E | 0.9977 | likely_pathogenic | 0.9974 | pathogenic | -2.222 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/G | 0.988 | likely_pathogenic | 0.9864 | pathogenic | -2.388 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/H | 0.9965 | likely_pathogenic | 0.9963 | pathogenic | -2.093 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.662163495 | None | None | N |
| P/I | 0.994 | likely_pathogenic | 0.9926 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/K | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/L | 0.9752 | likely_pathogenic | 0.9687 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.64594233 | None | None | N |
| P/M | 0.995 | likely_pathogenic | 0.9938 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/N | 0.9967 | likely_pathogenic | 0.9962 | pathogenic | -1.724 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/Q | 0.9957 | likely_pathogenic | 0.9951 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/R | 0.9963 | likely_pathogenic | 0.9963 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.646144134 | None | None | N |
| P/S | 0.9786 | likely_pathogenic | 0.9704 | pathogenic | -2.272 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.597046669 | None | None | N |
| P/T | 0.9749 | likely_pathogenic | 0.9658 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.620404218 | None | None | N |
| P/V | 0.9786 | likely_pathogenic | 0.9717 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.889 | 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.