Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25585 | 76978;76979;76980 | chr2:178569379;178569378;178569377 | chr2:179434106;179434105;179434104 |
| N2AB | 23944 | 72055;72056;72057 | chr2:178569379;178569378;178569377 | chr2:179434106;179434105;179434104 |
| N2A | 23017 | 69274;69275;69276 | chr2:178569379;178569378;178569377 | chr2:179434106;179434105;179434104 |
| N2B | 16520 | 49783;49784;49785 | chr2:178569379;178569378;178569377 | chr2:179434106;179434105;179434104 |
| Novex-1 | 16645 | 50158;50159;50160 | chr2:178569379;178569378;178569377 | chr2:179434106;179434105;179434104 |
| Novex-2 | 16712 | 50359;50360;50361 | chr2:178569379;178569378;178569377 | chr2:179434106;179434105;179434104 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs1171173179  |
-0.035 | 1.0 | D | 0.722 | 0.633 | 0.266385636622 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs1171173179 |
-0.035 | 1.0 | D | 0.722 | 0.633 | 0.266385636622 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs1171173179 |
-0.035 | 1.0 | D | 0.722 | 0.633 | 0.266385636622 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.994 | likely_pathogenic | 0.9945 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| N/C | 0.9569 | likely_pathogenic | 0.9619 | pathogenic | 0.093 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| N/D | 0.9854 | likely_pathogenic | 0.987 | pathogenic | -1.205 | Destabilizing | 0.999 | D | 0.597 | neutral | D | 0.535306789 | None | None | N |
| N/E | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -1.197 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| N/F | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| N/G | 0.9846 | likely_pathogenic | 0.9856 | pathogenic | -0.683 | Destabilizing | 0.999 | D | 0.542 | neutral | None | None | None | None | N |
| N/H | 0.9801 | likely_pathogenic | 0.9818 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.536574237 | None | None | N |
| N/I | 0.992 | likely_pathogenic | 0.9926 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.530244361 | None | None | N |
| N/K | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -0.054 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.547423563 | None | None | N |
| N/L | 0.9907 | likely_pathogenic | 0.9908 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| N/M | 0.9928 | likely_pathogenic | 0.9935 | pathogenic | 0.68 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/P | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| N/R | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | 0.122 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| N/S | 0.8279 | likely_pathogenic | 0.8498 | pathogenic | -0.48 | Destabilizing | 0.999 | D | 0.565 | neutral | N | 0.509605211 | None | None | N |
| N/T | 0.9557 | likely_pathogenic | 0.9594 | pathogenic | -0.337 | Destabilizing | 0.999 | D | 0.692 | prob.neutral | D | 0.535560279 | None | None | N |
| N/V | 0.99 | likely_pathogenic | 0.9904 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9902 | likely_pathogenic | 0.9905 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.547930542 | 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.