Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19221 | 57886;57887;57888 | chr2:178595693;178595692;178595691 | chr2:179460420;179460419;179460418 |
| N2AB | 17580 | 52963;52964;52965 | chr2:178595693;178595692;178595691 | chr2:179460420;179460419;179460418 |
| N2A | 16653 | 50182;50183;50184 | chr2:178595693;178595692;178595691 | chr2:179460420;179460419;179460418 |
| N2B | 10156 | 30691;30692;30693 | chr2:178595693;178595692;178595691 | chr2:179460420;179460419;179460418 |
| Novex-1 | 10281 | 31066;31067;31068 | chr2:178595693;178595692;178595691 | chr2:179460420;179460419;179460418 |
| Novex-2 | 10348 | 31267;31268;31269 | chr2:178595693;178595692;178595691 | chr2:179460420;179460419;179460418 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | None | None | 0.104 | N | 0.273 | 0.159 | 0.392702134506 | gnomAD-4.0.0 | 3.43234E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50574E-06 | 0 | 0 |
| I/T | rs907612053  |
None | 0.998 | D | 0.705 | 0.531 | 0.764331090147 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs907612053 |
None | 0.998 | D | 0.705 | 0.531 | 0.764331090147 | gnomAD-4.0.0 | 1.62419E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 5.16529E-04 | 1.8075E-05 | 0 | 0 |
| I/V | None | None | 0.889 | N | 0.269 | 0.136 | 0.472023113445 | gnomAD-4.0.0 | 6.86467E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17725E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9103 | likely_pathogenic | 0.9218 | pathogenic | -2.911 | Highly Destabilizing | 0.996 | D | 0.657 | neutral | None | None | None | None | N |
| I/C | 0.9733 | likely_pathogenic | 0.9772 | pathogenic | -2.048 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| I/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.654 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| I/E | 0.9974 | likely_pathogenic | 0.9976 | pathogenic | -3.318 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| I/F | 0.7997 | likely_pathogenic | 0.8102 | pathogenic | -1.761 | Destabilizing | 0.997 | D | 0.641 | neutral | D | 0.5239483 | None | None | N |
| I/G | 0.9955 | likely_pathogenic | 0.9958 | pathogenic | -3.534 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| I/H | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -3.198 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| I/K | 0.9947 | likely_pathogenic | 0.9953 | pathogenic | -2.338 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| I/L | 0.2607 | likely_benign | 0.2703 | benign | -1.023 | Destabilizing | 0.104 | N | 0.273 | neutral | N | 0.471789294 | None | None | N |
| I/M | 0.3334 | likely_benign | 0.3468 | ambiguous | -1.146 | Destabilizing | 0.997 | D | 0.646 | neutral | N | 0.500817616 | None | None | N |
| I/N | 0.9956 | likely_pathogenic | 0.9957 | pathogenic | -3.108 | Highly Destabilizing | 0.999 | D | 0.915 | deleterious | D | 0.52420179 | None | None | N |
| I/P | 0.9968 | likely_pathogenic | 0.9972 | pathogenic | -1.645 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| I/Q | 0.9956 | likely_pathogenic | 0.9955 | pathogenic | -2.728 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| I/R | 0.9916 | likely_pathogenic | 0.9928 | pathogenic | -2.399 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| I/S | 0.9834 | likely_pathogenic | 0.9843 | pathogenic | -3.652 | Highly Destabilizing | 0.999 | D | 0.823 | deleterious | D | 0.52420179 | None | None | N |
| I/T | 0.8652 | likely_pathogenic | 0.8852 | pathogenic | -3.145 | Highly Destabilizing | 0.998 | D | 0.705 | prob.neutral | D | 0.5239483 | None | None | N |
| I/V | 0.121 | likely_benign | 0.1266 | benign | -1.645 | Destabilizing | 0.889 | D | 0.269 | neutral | N | 0.416348938 | None | None | N |
| I/W | 0.9945 | likely_pathogenic | 0.9949 | pathogenic | -2.149 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| I/Y | 0.9889 | likely_pathogenic | 0.9894 | pathogenic | -1.961 | Destabilizing | 1.0 | D | 0.755 | 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.