Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9207 | 27844;27845;27846 | chr2:178712211;178712210;178712209 | chr2:179576938;179576937;179576936 |
| N2AB | 8890 | 26893;26894;26895 | chr2:178712211;178712210;178712209 | chr2:179576938;179576937;179576936 |
| N2A | 7963 | 24112;24113;24114 | chr2:178712211;178712210;178712209 | chr2:179576938;179576937;179576936 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/V | rs765453217  |
-2.146 | 1.0 | N | 0.751 | 0.778 | 0.877337478775 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.31148E-04 | None | 0 | 7.83E-06 | 0 |
| F/V | rs765453217 |
-2.146 | 1.0 | N | 0.751 | 0.778 | 0.877337478775 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.06954E-04 | 0 |
| F/V | rs765453217 |
-2.146 | 1.0 | N | 0.751 | 0.778 | 0.877337478775 | gnomAD-4.0.0 | 1.79798E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.93583E-04 | 8.47994E-07 | 2.19785E-04 | 8.00974E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.8978 | likely_pathogenic | 0.8954 | pathogenic | -2.643 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| F/C | 0.8216 | likely_pathogenic | 0.8192 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.561643246 | None | None | N |
| F/D | 0.9885 | likely_pathogenic | 0.9872 | pathogenic | -2.044 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| F/E | 0.9871 | likely_pathogenic | 0.986 | pathogenic | -1.919 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| F/G | 0.9779 | likely_pathogenic | 0.9755 | pathogenic | -3.011 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| F/H | 0.9421 | likely_pathogenic | 0.9425 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| F/I | 0.3586 | ambiguous | 0.3378 | benign | -1.483 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.533560976 | None | None | N |
| F/K | 0.9853 | likely_pathogenic | 0.985 | pathogenic | -1.449 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/L | 0.9065 | likely_pathogenic | 0.8952 | pathogenic | -1.483 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.501388545 | None | None | N |
| F/M | 0.7617 | likely_pathogenic | 0.7575 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| F/N | 0.9678 | likely_pathogenic | 0.9639 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| F/P | 0.9879 | likely_pathogenic | 0.9854 | pathogenic | -1.871 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| F/Q | 0.9777 | likely_pathogenic | 0.9771 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| F/R | 0.9636 | likely_pathogenic | 0.9645 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| F/S | 0.899 | likely_pathogenic | 0.892 | pathogenic | -2.335 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.549779962 | None | None | N |
| F/T | 0.9011 | likely_pathogenic | 0.8956 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| F/V | 0.4279 | ambiguous | 0.4053 | ambiguous | -1.871 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.503426007 | None | None | N |
| F/W | 0.8277 | likely_pathogenic | 0.8254 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| F/Y | 0.4833 | ambiguous | 0.4767 | ambiguous | -0.714 | Destabilizing | 0.999 | D | 0.6 | neutral | D | 0.538512562 | 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.