Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19482 | 58669;58670;58671 | chr2:178593856;178593855;178593854 | chr2:179458583;179458582;179458581 |
| N2AB | 17841 | 53746;53747;53748 | chr2:178593856;178593855;178593854 | chr2:179458583;179458582;179458581 |
| N2A | 16914 | 50965;50966;50967 | chr2:178593856;178593855;178593854 | chr2:179458583;179458582;179458581 |
| N2B | 10417 | 31474;31475;31476 | chr2:178593856;178593855;178593854 | chr2:179458583;179458582;179458581 |
| Novex-1 | 10542 | 31849;31850;31851 | chr2:178593856;178593855;178593854 | chr2:179458583;179458582;179458581 |
| Novex-2 | 10609 | 32050;32051;32052 | chr2:178593856;178593855;178593854 | chr2:179458583;179458582;179458581 |
| 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 | rs746380279  |
-0.78 | 1.0 | N | 0.892 | 0.481 | 0.710211490884 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.70184E-04 |
| P/L | rs746380279 |
-0.78 | 1.0 | N | 0.892 | 0.481 | 0.710211490884 | gnomAD-4.0.0 | 2.05932E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.701E-06 | 0 | 0 |
| P/Q | None | None | 1.0 | N | 0.883 | 0.465 | 0.522344865107 | gnomAD-4.0.0 | 6.86439E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00333E-07 | 0 | 0 |
| P/S | rs758990147 |
-1.792 | 1.0 | N | 0.886 | 0.433 | 0.425148423609 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.74E-05 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs758990147 |
-1.792 | 1.0 | N | 0.886 | 0.433 | 0.425148423609 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 3.87898E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs758990147 |
-1.792 | 1.0 | N | 0.886 | 0.433 | 0.425148423609 | gnomAD-4.0.0 | 1.31728E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 3.87898E-04 | 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 | 0.1073 | likely_benign | 0.1266 | benign | -1.539 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.468610534 | None | None | I |
| P/C | 0.5467 | ambiguous | 0.5612 | ambiguous | -1.017 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| P/D | 0.7586 | likely_pathogenic | 0.7946 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| P/E | 0.4258 | ambiguous | 0.4632 | ambiguous | -1.364 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | I |
| P/F | 0.5839 | likely_pathogenic | 0.6064 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| P/G | 0.5815 | likely_pathogenic | 0.6481 | pathogenic | -1.825 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| P/H | 0.3453 | ambiguous | 0.3774 | ambiguous | -1.318 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| P/I | 0.2497 | likely_benign | 0.2496 | benign | -0.864 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | I |
| P/K | 0.31 | likely_benign | 0.3452 | ambiguous | -1.214 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | I |
| P/L | 0.1535 | likely_benign | 0.1532 | benign | -0.864 | Destabilizing | 1.0 | D | 0.892 | deleterious | N | 0.517505249 | None | None | I |
| P/M | 0.3345 | likely_benign | 0.3536 | ambiguous | -0.613 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| P/N | 0.6123 | likely_pathogenic | 0.6513 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| P/Q | 0.2278 | likely_benign | 0.2642 | benign | -1.18 | Destabilizing | 1.0 | D | 0.883 | deleterious | N | 0.506909412 | None | None | I |
| P/R | 0.2525 | likely_benign | 0.2802 | benign | -0.64 | Destabilizing | 1.0 | D | 0.919 | deleterious | N | 0.506909412 | None | None | I |
| P/S | 0.2396 | likely_benign | 0.2873 | benign | -1.455 | Destabilizing | 1.0 | D | 0.886 | deleterious | N | 0.491542819 | None | None | I |
| P/T | 0.184 | likely_benign | 0.2108 | benign | -1.384 | Destabilizing | 1.0 | D | 0.876 | deleterious | N | 0.488551668 | None | None | I |
| P/V | 0.1983 | likely_benign | 0.204 | benign | -1.055 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| P/W | 0.8341 | likely_pathogenic | 0.8476 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| P/Y | 0.6183 | likely_pathogenic | 0.638 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | I |
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.