Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28314 | 85165;85166;85167 | chr2:178561192;178561191;178561190 | chr2:179425919;179425918;179425917 |
| N2AB | 26673 | 80242;80243;80244 | chr2:178561192;178561191;178561190 | chr2:179425919;179425918;179425917 |
| N2A | 25746 | 77461;77462;77463 | chr2:178561192;178561191;178561190 | chr2:179425919;179425918;179425917 |
| N2B | 19249 | 57970;57971;57972 | chr2:178561192;178561191;178561190 | chr2:179425919;179425918;179425917 |
| Novex-1 | 19374 | 58345;58346;58347 | chr2:178561192;178561191;178561190 | chr2:179425919;179425918;179425917 |
| Novex-2 | 19441 | 58546;58547;58548 | chr2:178561192;178561191;178561190 | chr2:179425919;179425918;179425917 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1442636431  |
-2.116 | 0.998 | N | 0.625 | 0.477 | 0.671977266625 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/A | rs1442636431 |
-2.116 | 0.998 | N | 0.625 | 0.477 | 0.671977266625 | gnomAD-4.0.0 | 1.36862E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79891E-06 | 0 | 0 |
| V/E | rs1442636431 |
None | 1.0 | D | 0.828 | 0.674 | 0.866447684979 | gnomAD-4.0.0 | 6.84309E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52385E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs754089695 |
-0.096 | 0.767 | N | 0.238 | 0.135 | 0.552900881131 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/I | rs754089695 |
-0.096 | 0.767 | N | 0.238 | 0.135 | 0.552900881131 | gnomAD-4.0.0 | 5.47458E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19567E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5459 | ambiguous | 0.4781 | ambiguous | -1.593 | Destabilizing | 0.998 | D | 0.625 | neutral | N | 0.485734646 | None | None | N |
| V/C | 0.9205 | likely_pathogenic | 0.9207 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| V/D | 0.9854 | likely_pathogenic | 0.9818 | pathogenic | -2.129 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| V/E | 0.9687 | likely_pathogenic | 0.9617 | pathogenic | -1.847 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.558089214 | None | None | N |
| V/F | 0.844 | likely_pathogenic | 0.8264 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| V/G | 0.8427 | likely_pathogenic | 0.8086 | pathogenic | -2.193 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.558089214 | None | None | N |
| V/H | 0.9924 | likely_pathogenic | 0.9919 | pathogenic | -2.166 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/I | 0.1244 | likely_benign | 0.1214 | benign | 0.099 | Stabilizing | 0.767 | D | 0.238 | neutral | N | 0.503533566 | None | None | N |
| V/K | 0.9834 | likely_pathogenic | 0.9806 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| V/L | 0.6755 | likely_pathogenic | 0.6517 | pathogenic | 0.099 | Stabilizing | 0.981 | D | 0.617 | neutral | N | 0.473949224 | None | None | N |
| V/M | 0.6098 | likely_pathogenic | 0.5858 | pathogenic | -0.157 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| V/N | 0.9629 | likely_pathogenic | 0.9557 | pathogenic | -1.647 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| V/P | 0.9833 | likely_pathogenic | 0.9782 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/Q | 0.9735 | likely_pathogenic | 0.9678 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| V/R | 0.9785 | likely_pathogenic | 0.9741 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| V/S | 0.8929 | likely_pathogenic | 0.8711 | pathogenic | -2.284 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| V/T | 0.7689 | likely_pathogenic | 0.7589 | pathogenic | -1.828 | Destabilizing | 0.998 | D | 0.665 | neutral | None | None | None | None | N |
| V/W | 0.9967 | likely_pathogenic | 0.997 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/Y | 0.9771 | likely_pathogenic | 0.9753 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.813 | 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.