Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31076 | 93451;93452;93453 | chr2:178548400;178548399;178548398 | chr2:179413127;179413126;179413125 |
| N2AB | 29435 | 88528;88529;88530 | chr2:178548400;178548399;178548398 | chr2:179413127;179413126;179413125 |
| N2A | 28508 | 85747;85748;85749 | chr2:178548400;178548399;178548398 | chr2:179413127;179413126;179413125 |
| N2B | 22011 | 66256;66257;66258 | chr2:178548400;178548399;178548398 | chr2:179413127;179413126;179413125 |
| Novex-1 | 22136 | 66631;66632;66633 | chr2:178548400;178548399;178548398 | chr2:179413127;179413126;179413125 |
| Novex-2 | 22203 | 66832;66833;66834 | chr2:178548400;178548399;178548398 | chr2:179413127;179413126;179413125 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | rs778813590  |
-0.208 | 0.22 | N | 0.565 | 0.185 | 0.200317383148 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 1.29266E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/Q | rs778813590 |
-0.208 | 0.22 | N | 0.565 | 0.185 | 0.200317383148 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs778813590 |
-0.208 | 0.22 | N | 0.565 | 0.185 | 0.200317383148 | gnomAD-4.0.0 | 1.31461E-05 | None | None | None | None | N | None | 4.82602E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs1186129682 |
-0.145 | None | N | 0.171 | 0.095 | 0.242825505644 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65782E-04 |
| K/R | rs1186129682 |
-0.145 | None | N | 0.171 | 0.095 | 0.242825505644 | gnomAD-4.0.0 | 1.59114E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.4108E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5855 | likely_pathogenic | 0.5738 | pathogenic | -0.579 | Destabilizing | 0.272 | N | 0.644 | neutral | None | None | None | None | N |
| K/C | 0.7119 | likely_pathogenic | 0.7223 | pathogenic | -0.602 | Destabilizing | 0.968 | D | 0.773 | deleterious | None | None | None | None | N |
| K/D | 0.8788 | likely_pathogenic | 0.8806 | pathogenic | -0.011 | Destabilizing | 0.567 | D | 0.678 | prob.neutral | None | None | None | None | N |
| K/E | 0.5051 | ambiguous | 0.517 | ambiguous | 0.085 | Stabilizing | 0.124 | N | 0.57 | neutral | N | 0.510014034 | None | None | N |
| K/F | 0.8805 | likely_pathogenic | 0.88 | pathogenic | -0.407 | Destabilizing | 0.726 | D | 0.764 | deleterious | None | None | None | None | N |
| K/G | 0.7335 | likely_pathogenic | 0.7357 | pathogenic | -0.919 | Destabilizing | 0.272 | N | 0.649 | neutral | None | None | None | None | N |
| K/H | 0.3124 | likely_benign | 0.3331 | benign | -1.27 | Destabilizing | 0.726 | D | 0.723 | prob.delet. | None | None | None | None | N |
| K/I | 0.5257 | ambiguous | 0.5038 | ambiguous | 0.288 | Stabilizing | 0.726 | D | 0.765 | deleterious | None | None | None | None | N |
| K/L | 0.5069 | ambiguous | 0.4963 | ambiguous | 0.288 | Stabilizing | 0.272 | N | 0.649 | neutral | None | None | None | None | N |
| K/M | 0.4072 | ambiguous | 0.4105 | ambiguous | 0.186 | Stabilizing | 0.958 | D | 0.715 | prob.delet. | N | 0.494664053 | None | None | N |
| K/N | 0.7564 | likely_pathogenic | 0.7724 | pathogenic | -0.375 | Destabilizing | 0.22 | N | 0.551 | neutral | N | 0.474153488 | None | None | N |
| K/P | 0.7901 | likely_pathogenic | 0.786 | pathogenic | 0.029 | Stabilizing | 0.726 | D | 0.712 | prob.delet. | None | None | None | None | N |
| K/Q | 0.2002 | likely_benign | 0.2164 | benign | -0.463 | Destabilizing | 0.22 | N | 0.565 | neutral | N | 0.50810988 | None | None | N |
| K/R | 0.0672 | likely_benign | 0.0681 | benign | -0.515 | Destabilizing | None | N | 0.171 | neutral | N | 0.449197649 | None | None | N |
| K/S | 0.6786 | likely_pathogenic | 0.6896 | pathogenic | -1.053 | Destabilizing | 0.272 | N | 0.523 | neutral | None | None | None | None | N |
| K/T | 0.3078 | likely_benign | 0.3127 | benign | -0.748 | Destabilizing | 0.22 | N | 0.645 | neutral | N | 0.453520459 | None | None | N |
| K/V | 0.4619 | ambiguous | 0.4522 | ambiguous | 0.029 | Stabilizing | 0.567 | D | 0.689 | prob.neutral | None | None | None | None | N |
| K/W | 0.7886 | likely_pathogenic | 0.803 | pathogenic | -0.277 | Destabilizing | 0.968 | D | 0.757 | deleterious | None | None | None | None | N |
| K/Y | 0.7524 | likely_pathogenic | 0.7594 | pathogenic | 0.021 | Stabilizing | 0.726 | D | 0.768 | 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.