Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18518 | 55777;55778;55779 | chr2:178601445;178601444;178601443 | chr2:179466172;179466171;179466170 |
| N2AB | 16877 | 50854;50855;50856 | chr2:178601445;178601444;178601443 | chr2:179466172;179466171;179466170 |
| N2A | 15950 | 48073;48074;48075 | chr2:178601445;178601444;178601443 | chr2:179466172;179466171;179466170 |
| N2B | 9453 | 28582;28583;28584 | chr2:178601445;178601444;178601443 | chr2:179466172;179466171;179466170 |
| Novex-1 | 9578 | 28957;28958;28959 | chr2:178601445;178601444;178601443 | chr2:179466172;179466171;179466170 |
| Novex-2 | 9645 | 29158;29159;29160 | chr2:178601445;178601444;178601443 | chr2:179466172;179466171;179466170 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | rs72646823  |
-0.875 | 0.999 | N | 0.713 | 0.33 | None | gnomAD-2.1.1 | 1.68023E-03 | None | None | None | None | N | None | 6.16314E-03 | 1.44541E-03 | None | 1.69213E-02 | 0 | None | 2.28773E-04 | None | 0 | 5.3967E-04 | 2.66929E-03 |
| K/R | rs72646823 |
-0.875 | 0.999 | N | 0.713 | 0.33 | None | gnomAD-3.1.2 | 2.50727E-03 | None | None | None | None | N | None | 5.94146E-03 | 2.69206E-03 | 0 | 1.49942E-02 | 0 | None | 0 | 6.32911E-03 | 5.00383E-04 | 0 | 2.87356E-03 |
| K/R | rs72646823 |
-0.875 | 0.999 | N | 0.713 | 0.33 | None | 1000 genomes | 2.59585E-03 | None | None | None | None | N | None | 9.8E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| K/R | rs72646823 |
-0.875 | 0.999 | N | 0.713 | 0.33 | None | gnomAD-4.0.0 | 1.08186E-03 | None | None | None | None | N | None | 6.02988E-03 | 1.71919E-03 | None | 1.68334E-02 | 0 | None | 0 | 7.43065E-03 | 4.01067E-04 | 2.30688E-04 | 2.44988E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9828 | likely_pathogenic | 0.9863 | pathogenic | -1.437 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| K/C | 0.9563 | likely_pathogenic | 0.9612 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| K/D | 0.9978 | likely_pathogenic | 0.9983 | pathogenic | -1.922 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| K/E | 0.9635 | likely_pathogenic | 0.968 | pathogenic | -1.584 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | N | 0.497715473 | None | None | N |
| K/F | 0.9881 | likely_pathogenic | 0.9887 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| K/G | 0.9879 | likely_pathogenic | 0.991 | pathogenic | -1.939 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| K/H | 0.8839 | likely_pathogenic | 0.8791 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| K/I | 0.9413 | likely_pathogenic | 0.9509 | pathogenic | 0.01 | Stabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| K/L | 0.9163 | likely_pathogenic | 0.9238 | pathogenic | 0.01 | Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| K/M | 0.8225 | likely_pathogenic | 0.8424 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.511862261 | None | None | N |
| K/N | 0.991 | likely_pathogenic | 0.9921 | pathogenic | -1.69 | Destabilizing | 1.0 | D | 0.838 | deleterious | N | 0.515819728 | None | None | N |
| K/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| K/Q | 0.7502 | likely_pathogenic | 0.7571 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.481586228 | None | None | N |
| K/R | 0.1822 | likely_benign | 0.195 | benign | -0.62 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | N | 0.47039964 | None | None | N |
| K/S | 0.9895 | likely_pathogenic | 0.991 | pathogenic | -2.236 | Highly Destabilizing | 0.999 | D | 0.772 | deleterious | None | None | None | None | N |
| K/T | 0.9475 | likely_pathogenic | 0.9572 | pathogenic | -1.621 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.471102068 | None | None | N |
| K/V | 0.9177 | likely_pathogenic | 0.9282 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| K/W | 0.9824 | likely_pathogenic | 0.9834 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| K/Y | 0.9447 | likely_pathogenic | 0.9321 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.857 | 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.