Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17471 | 52636;52637;52638 | chr2:178608472;178608471;178608470 | chr2:179473199;179473198;179473197 |
| N2AB | 15830 | 47713;47714;47715 | chr2:178608472;178608471;178608470 | chr2:179473199;179473198;179473197 |
| N2A | 14903 | 44932;44933;44934 | chr2:178608472;178608471;178608470 | chr2:179473199;179473198;179473197 |
| N2B | 8406 | 25441;25442;25443 | chr2:178608472;178608471;178608470 | chr2:179473199;179473198;179473197 |
| Novex-1 | 8531 | 25816;25817;25818 | chr2:178608472;178608471;178608470 | chr2:179473199;179473198;179473197 |
| Novex-2 | 8598 | 26017;26018;26019 | chr2:178608472;178608471;178608470 | chr2:179473199;179473198;179473197 |
| 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/L | None | None | 1.0 | D | 0.812 | 0.543 | 0.732255638028 | gnomAD-4.0.0 | 6.99387E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.09809E-07 | 0 | 0 |
| P/S | rs551867239  |
-2.239 | 1.0 | D | 0.741 | 0.567 | 0.530948259028 | gnomAD-2.1.1 | 1.41E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.24616E-04 | None | 0 | 0 | 0 |
| P/S | rs551867239 |
-2.239 | 1.0 | D | 0.741 | 0.567 | 0.530948259028 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| P/S | rs551867239 |
-2.239 | 1.0 | D | 0.741 | 0.567 | 0.530948259028 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| P/S | rs551867239 |
-2.239 | 1.0 | D | 0.741 | 0.567 | 0.530948259028 | gnomAD-4.0.0 | 4.42579E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.56948E-07 | 4.69473E-05 | 3.26915E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8164 | likely_pathogenic | 0.7778 | pathogenic | -1.326 | Destabilizing | 0.999 | D | 0.799 | deleterious | D | 0.523161379 | None | None | N |
| P/C | 0.9859 | likely_pathogenic | 0.983 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -3.333 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| P/E | 0.9976 | likely_pathogenic | 0.997 | pathogenic | -3.243 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/G | 0.9923 | likely_pathogenic | 0.9897 | pathogenic | -1.653 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/H | 0.9973 | likely_pathogenic | 0.9969 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.556358149 | None | None | N |
| P/I | 0.9927 | likely_pathogenic | 0.9923 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/K | 0.9978 | likely_pathogenic | 0.9975 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| P/L | 0.977 | likely_pathogenic | 0.9726 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.535883583 | None | None | N |
| P/M | 0.9966 | likely_pathogenic | 0.9963 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| P/N | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.811 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/Q | 0.9957 | likely_pathogenic | 0.9946 | pathogenic | -1.857 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| P/R | 0.992 | likely_pathogenic | 0.99 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.544241375 | None | None | N |
| P/S | 0.9804 | likely_pathogenic | 0.9768 | pathogenic | -2.037 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.53740452 | None | None | N |
| P/T | 0.979 | likely_pathogenic | 0.9771 | pathogenic | -1.851 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.543734396 | None | None | N |
| P/V | 0.9729 | likely_pathogenic | 0.9703 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.827 | 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.