Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31749 | 95470;95471;95472 | chr2:178545991;178545990;178545989 | chr2:179410718;179410717;179410716 |
| N2AB | 30108 | 90547;90548;90549 | chr2:178545991;178545990;178545989 | chr2:179410718;179410717;179410716 |
| N2A | 29181 | 87766;87767;87768 | chr2:178545991;178545990;178545989 | chr2:179410718;179410717;179410716 |
| N2B | 22684 | 68275;68276;68277 | chr2:178545991;178545990;178545989 | chr2:179410718;179410717;179410716 |
| Novex-1 | 22809 | 68650;68651;68652 | chr2:178545991;178545990;178545989 | chr2:179410718;179410717;179410716 |
| Novex-2 | 22876 | 68851;68852;68853 | chr2:178545991;178545990;178545989 | chr2:179410718;179410717;179410716 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | 0.999 | N | 0.643 | 0.563 | 0.435699915968 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/D | None | None | 0.999 | N | 0.458 | 0.141 | 0.388653054685 | gnomAD-4.0.0 | 6.84213E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| E/K | rs139542862  |
-0.806 | 1.0 | N | 0.573 | 0.419 | None | gnomAD-2.1.1 | 8.57E-05 | None | None | None | None | N | None | 2.89304E-04 | 2.83E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.17277E-04 | 0 |
| E/K | rs139542862 |
-0.806 | 1.0 | N | 0.573 | 0.419 | None | gnomAD-3.1.2 | 1.24882E-04 | None | None | None | None | N | None | 2.65508E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.17599E-04 | 0 | 0 |
| E/K | rs139542862 |
-0.806 | 1.0 | N | 0.573 | 0.419 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| E/K | rs139542862 |
-0.806 | 1.0 | N | 0.573 | 0.419 | None | gnomAD-4.0.0 | 6.07269E-05 | None | None | None | None | N | None | 1.99957E-04 | 0 | None | 0 | 0 | None | 3.12471E-05 | 0 | 6.61135E-05 | 2.19573E-05 | 1.60072E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.9492 | likely_pathogenic | 0.9696 | pathogenic | -0.95 | Destabilizing | 0.999 | D | 0.643 | neutral | N | 0.480967571 | None | None | N |
| E/C | 0.9974 | likely_pathogenic | 0.9978 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| E/D | 0.8144 | likely_pathogenic | 0.855 | pathogenic | -1.339 | Destabilizing | 0.999 | D | 0.458 | neutral | N | 0.478155119 | None | None | N |
| E/F | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| E/G | 0.9566 | likely_pathogenic | 0.9715 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | N | 0.485766964 | None | None | N |
| E/H | 0.9945 | likely_pathogenic | 0.9957 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| E/I | 0.9906 | likely_pathogenic | 0.9951 | pathogenic | 0.144 | Stabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| E/K | 0.972 | likely_pathogenic | 0.9802 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.573 | neutral | N | 0.473103531 | None | None | N |
| E/L | 0.9911 | likely_pathogenic | 0.9954 | pathogenic | 0.144 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| E/M | 0.9883 | likely_pathogenic | 0.9943 | pathogenic | 0.671 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/N | 0.9799 | likely_pathogenic | 0.9882 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| E/P | 0.9944 | likely_pathogenic | 0.9961 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| E/Q | 0.9134 | likely_pathogenic | 0.9434 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.485447342 | None | None | N |
| E/R | 0.983 | likely_pathogenic | 0.9861 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| E/S | 0.9706 | likely_pathogenic | 0.9816 | pathogenic | -1.647 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| E/T | 0.9882 | likely_pathogenic | 0.9932 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| E/V | 0.9742 | likely_pathogenic | 0.9867 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.499592032 | None | None | N |
| E/W | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.16 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| E/Y | 0.9975 | likely_pathogenic | 0.9982 | pathogenic | -0.131 | Destabilizing | 1.0 | D | 0.747 | 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.