Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35158 | 105697;105698;105699 | chr2:178531143;178531142;178531141 | chr2:179395870;179395869;179395868 |
| N2AB | 33517 | 100774;100775;100776 | chr2:178531143;178531142;178531141 | chr2:179395870;179395869;179395868 |
| N2A | 32590 | 97993;97994;97995 | chr2:178531143;178531142;178531141 | chr2:179395870;179395869;179395868 |
| N2B | 26093 | 78502;78503;78504 | chr2:178531143;178531142;178531141 | chr2:179395870;179395869;179395868 |
| Novex-1 | 26218 | 78877;78878;78879 | chr2:178531143;178531142;178531141 | chr2:179395870;179395869;179395868 |
| Novex-2 | 26285 | 79078;79079;79080 | chr2:178531143;178531142;178531141 | chr2:179395870;179395869;179395868 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs758006957  |
-1.883 | 0.999 | D | 0.804 | 0.644 | 0.452834868696 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| P/A | rs758006957 |
-1.883 | 0.999 | D | 0.804 | 0.644 | 0.452834868696 | gnomAD-4.0.0 | 7.52548E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99392E-06 | 0 | 1.65634E-05 |
| P/Q | rs749980197 |
-2.006 | 1.0 | D | 0.836 | 0.645 | 0.683264030212 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| P/Q | rs749980197 |
-2.006 | 1.0 | D | 0.836 | 0.645 | 0.683264030212 | gnomAD-4.0.0 | 1.59087E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8575E-06 | 0 | 0 |
| P/T | rs758006957 |
-2.149 | 1.0 | D | 0.843 | 0.65 | 0.648683320972 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| P/T | rs758006957 |
-2.149 | 1.0 | D | 0.843 | 0.65 | 0.648683320972 | gnomAD-4.0.0 | 6.84135E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99392E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6936 | likely_pathogenic | 0.6331 | pathogenic | -1.925 | Destabilizing | 0.999 | D | 0.804 | deleterious | D | 0.530447939 | None | None | N |
| P/C | 0.9785 | likely_pathogenic | 0.9794 | pathogenic | -1.819 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| P/D | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -2.747 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/E | 0.994 | likely_pathogenic | 0.9939 | pathogenic | -2.66 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/F | 0.9973 | likely_pathogenic | 0.9978 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/G | 0.9769 | likely_pathogenic | 0.9722 | pathogenic | -2.298 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/H | 0.9919 | likely_pathogenic | 0.9925 | pathogenic | -1.783 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/I | 0.974 | likely_pathogenic | 0.9769 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/K | 0.9967 | likely_pathogenic | 0.9967 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/L | 0.8694 | likely_pathogenic | 0.8751 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.540724153 | None | None | N |
| P/M | 0.9841 | likely_pathogenic | 0.9854 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| P/N | 0.996 | likely_pathogenic | 0.996 | pathogenic | -1.676 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/Q | 0.9818 | likely_pathogenic | 0.9819 | pathogenic | -1.784 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.581495475 | None | None | N |
| P/R | 0.9868 | likely_pathogenic | 0.9875 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.581495475 | None | None | N |
| P/S | 0.9459 | likely_pathogenic | 0.9328 | pathogenic | -2.167 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.558275885 | None | None | N |
| P/T | 0.9291 | likely_pathogenic | 0.9239 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.558275885 | None | None | N |
| P/V | 0.9286 | likely_pathogenic | 0.9331 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/W | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/Y | 0.998 | likely_pathogenic | 0.9983 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.82 | 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.