Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20241 | 60946;60947;60948 | chr2:178591004;178591003;178591002 | chr2:179455731;179455730;179455729 |
| N2AB | 18600 | 56023;56024;56025 | chr2:178591004;178591003;178591002 | chr2:179455731;179455730;179455729 |
| N2A | 17673 | 53242;53243;53244 | chr2:178591004;178591003;178591002 | chr2:179455731;179455730;179455729 |
| N2B | 11176 | 33751;33752;33753 | chr2:178591004;178591003;178591002 | chr2:179455731;179455730;179455729 |
| Novex-1 | 11301 | 34126;34127;34128 | chr2:178591004;178591003;178591002 | chr2:179455731;179455730;179455729 |
| Novex-2 | 11368 | 34327;34328;34329 | chr2:178591004;178591003;178591002 | chr2:179455731;179455730;179455729 |
| 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/K | None | None | 0.999 | D | 0.603 | 0.382 | 0.460881144077 | gnomAD-4.0.0 | 6.84335E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52029E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs200212521  |
-0.584 | 1.0 | N | 0.609 | 0.337 | None | gnomAD-2.1.1 | 1.20048E-03 | None | None | None | None | N | None | 1.2409E-04 | 2.26296E-04 | None | 0 | 0 | None | 1.63409E-04 | None | 4.31586E-03 | 1.62184E-03 | 7.03631E-04 |
| E/Q | rs200212521 |
-0.584 | 1.0 | N | 0.609 | 0.337 | None | gnomAD-3.1.2 | 1.1243E-03 | None | None | None | None | N | None | 2.17181E-04 | 2.09808E-03 | 0 | 0 | 0 | None | 3.85773E-03 | 0 | 1.26474E-03 | 4.14079E-04 | 4.78927E-04 |
| E/Q | rs200212521 |
-0.584 | 1.0 | N | 0.609 | 0.337 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| E/Q | rs200212521 |
-0.584 | 1.0 | N | 0.609 | 0.337 | None | gnomAD-4.0.0 | 1.30959E-03 | None | None | None | None | N | None | 1.99984E-04 | 7.0014E-04 | None | 0 | 0 | None | 3.73426E-03 | 9.91408E-04 | 1.45138E-03 | 3.07456E-04 | 1.13666E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2345 | likely_benign | 0.2227 | benign | -1.112 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | N | 0.482448828 | None | None | N |
| E/C | 0.8638 | likely_pathogenic | 0.8473 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| E/D | 0.41 | ambiguous | 0.4016 | ambiguous | -1.261 | Destabilizing | 0.999 | D | 0.464 | neutral | N | 0.481941849 | None | None | N |
| E/F | 0.8922 | likely_pathogenic | 0.8854 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/G | 0.3855 | ambiguous | 0.3724 | ambiguous | -1.485 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.491603088 | None | None | N |
| E/H | 0.6365 | likely_pathogenic | 0.6074 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| E/I | 0.4847 | ambiguous | 0.4664 | ambiguous | -0.081 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| E/K | 0.2021 | likely_benign | 0.1835 | benign | -1.014 | Destabilizing | 0.999 | D | 0.603 | neutral | D | 0.523810051 | None | None | N |
| E/L | 0.556 | ambiguous | 0.5327 | ambiguous | -0.081 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| E/M | 0.5625 | ambiguous | 0.5441 | ambiguous | 0.525 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| E/N | 0.4878 | ambiguous | 0.4603 | ambiguous | -1.324 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| E/P | 0.6236 | likely_pathogenic | 0.5895 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| E/Q | 0.1612 | likely_benign | 0.1413 | benign | -1.18 | Destabilizing | 1.0 | D | 0.609 | neutral | N | 0.468103555 | None | None | N |
| E/R | 0.3167 | likely_benign | 0.2891 | benign | -0.838 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| E/S | 0.3111 | likely_benign | 0.2924 | benign | -1.764 | Destabilizing | 0.999 | D | 0.638 | neutral | None | None | None | None | N |
| E/T | 0.3039 | likely_benign | 0.2884 | benign | -1.449 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| E/V | 0.3054 | likely_benign | 0.2936 | benign | -0.405 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.525890351 | None | None | N |
| E/W | 0.9602 | likely_pathogenic | 0.9577 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| E/Y | 0.8231 | likely_pathogenic | 0.8102 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.787 | 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.