Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29588 | 88987;88988;88989 | chr2:178554585;178554584;178554583 | chr2:179419312;179419311;179419310 |
| N2AB | 27947 | 84064;84065;84066 | chr2:178554585;178554584;178554583 | chr2:179419312;179419311;179419310 |
| N2A | 27020 | 81283;81284;81285 | chr2:178554585;178554584;178554583 | chr2:179419312;179419311;179419310 |
| N2B | 20523 | 61792;61793;61794 | chr2:178554585;178554584;178554583 | chr2:179419312;179419311;179419310 |
| Novex-1 | 20648 | 62167;62168;62169 | chr2:178554585;178554584;178554583 | chr2:179419312;179419311;179419310 |
| Novex-2 | 20715 | 62368;62369;62370 | chr2:178554585;178554584;178554583 | chr2:179419312;179419311;179419310 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/S | rs551991700  |
None | 0.896 | N | 0.699 | 0.215 | 0.617365057919 | gnomAD-4.0.0 | 3.09807E-06 | None | None | None | None | N | None | 2.6656E-05 | 1.6665E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.20082E-05 |
| L/V | rs534126040 |
-1.337 | 0.946 | N | 0.615 | 0.238 | 0.322230723748 | gnomAD-2.1.1 | 1.20593E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.80392E-04 | None | 0 | 0 | 0 |
| L/V | rs534126040 |
-1.337 | 0.946 | N | 0.615 | 0.238 | 0.322230723748 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 8.29531E-04 | 0 |
| L/V | rs534126040 |
-1.337 | 0.946 | N | 0.615 | 0.238 | 0.322230723748 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| L/V | rs534126040 |
-1.337 | 0.946 | N | 0.615 | 0.238 | 0.322230723748 | gnomAD-4.0.0 | 5.94849E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.66226E-04 | 1.28033E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.2365 | likely_benign | 0.2245 | benign | -2.511 | Highly Destabilizing | 0.919 | D | 0.631 | neutral | None | None | None | None | N |
| L/C | 0.4258 | ambiguous | 0.4103 | ambiguous | -1.65 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | None | None | None | None | N |
| L/D | 0.8427 | likely_pathogenic | 0.8314 | pathogenic | -2.833 | Highly Destabilizing | 0.976 | D | 0.743 | deleterious | None | None | None | None | N |
| L/E | 0.4556 | ambiguous | 0.4217 | ambiguous | -2.642 | Highly Destabilizing | 0.851 | D | 0.735 | prob.delet. | None | None | None | None | N |
| L/F | 0.2855 | likely_benign | 0.2886 | benign | -1.52 | Destabilizing | 0.984 | D | 0.717 | prob.delet. | N | 0.477192327 | None | None | N |
| L/G | 0.6642 | likely_pathogenic | 0.6518 | pathogenic | -3.022 | Highly Destabilizing | 0.976 | D | 0.744 | deleterious | None | None | None | None | N |
| L/H | 0.2765 | likely_benign | 0.2662 | benign | -2.47 | Highly Destabilizing | 0.159 | N | 0.607 | neutral | None | None | None | None | N |
| L/I | 0.11 | likely_benign | 0.1055 | benign | -1.047 | Destabilizing | 0.959 | D | 0.648 | neutral | None | None | None | None | N |
| L/K | 0.3665 | ambiguous | 0.3319 | benign | -1.885 | Destabilizing | 0.851 | D | 0.695 | prob.neutral | None | None | None | None | N |
| L/M | 0.1262 | likely_benign | 0.1249 | benign | -0.901 | Destabilizing | 0.984 | D | 0.689 | prob.neutral | N | 0.48581181 | None | None | N |
| L/N | 0.5337 | ambiguous | 0.5128 | ambiguous | -2.114 | Highly Destabilizing | 0.976 | D | 0.745 | deleterious | None | None | None | None | N |
| L/P | 0.688 | likely_pathogenic | 0.6661 | pathogenic | -1.516 | Destabilizing | 0.988 | D | 0.785 | deleterious | None | None | None | None | N |
| L/Q | 0.175 | likely_benign | 0.1607 | benign | -2.043 | Highly Destabilizing | 0.132 | N | 0.504 | neutral | None | None | None | None | N |
| L/R | 0.2887 | likely_benign | 0.2667 | benign | -1.514 | Destabilizing | 0.952 | D | 0.704 | prob.neutral | None | None | None | None | N |
| L/S | 0.3326 | likely_benign | 0.3249 | benign | -2.772 | Highly Destabilizing | 0.896 | D | 0.699 | prob.neutral | N | 0.452120524 | None | None | N |
| L/T | 0.2098 | likely_benign | 0.2004 | benign | -2.45 | Highly Destabilizing | 0.976 | D | 0.703 | prob.neutral | None | None | None | None | N |
| L/V | 0.097 | likely_benign | 0.092 | benign | -1.516 | Destabilizing | 0.946 | D | 0.615 | neutral | N | 0.371969016 | None | None | N |
| L/W | 0.4677 | ambiguous | 0.4982 | ambiguous | -1.932 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | N | 0.476319535 | None | None | N |
| L/Y | 0.5596 | ambiguous | 0.5575 | ambiguous | -1.651 | Destabilizing | 0.976 | D | 0.718 | prob.delet. | 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.