Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30303 | 91132;91133;91134 | chr2:178551993;178551992;178551991 | chr2:179416720;179416719;179416718 |
| N2AB | 28662 | 86209;86210;86211 | chr2:178551993;178551992;178551991 | chr2:179416720;179416719;179416718 |
| N2A | 27735 | 83428;83429;83430 | chr2:178551993;178551992;178551991 | chr2:179416720;179416719;179416718 |
| N2B | 21238 | 63937;63938;63939 | chr2:178551993;178551992;178551991 | chr2:179416720;179416719;179416718 |
| Novex-1 | 21363 | 64312;64313;64314 | chr2:178551993;178551992;178551991 | chr2:179416720;179416719;179416718 |
| Novex-2 | 21430 | 64513;64514;64515 | chr2:178551993;178551992;178551991 | chr2:179416720;179416719;179416718 |
| 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/D | rs749521838  |
-2.659 | 0.999 | D | 0.631 | 0.713 | 0.395441342475 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| N/D | rs749521838 |
-2.659 | 0.999 | D | 0.631 | 0.713 | 0.395441342475 | gnomAD-4.0.0 | 1.59587E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43443E-05 | 0 |
| N/I | None | None | 1.0 | D | 0.843 | 0.776 | 0.795677171995 | 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 | 0.998 | likely_pathogenic | 0.9984 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| N/C | 0.9736 | likely_pathogenic | 0.9718 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| N/D | 0.9815 | likely_pathogenic | 0.98 | pathogenic | -2.143 | Highly Destabilizing | 0.999 | D | 0.631 | neutral | D | 0.54180493 | None | None | N |
| N/E | 0.9983 | likely_pathogenic | 0.9986 | pathogenic | -1.933 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| N/F | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| N/G | 0.9886 | likely_pathogenic | 0.9902 | pathogenic | -1.329 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| N/H | 0.9849 | likely_pathogenic | 0.9876 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.565531499 | None | None | N |
| N/I | 0.9963 | likely_pathogenic | 0.9969 | pathogenic | -0.103 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.554682173 | None | None | N |
| N/K | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.553414725 | None | None | N |
| N/L | 0.9912 | likely_pathogenic | 0.9917 | pathogenic | -0.103 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| N/M | 0.9946 | likely_pathogenic | 0.9952 | pathogenic | 0.054 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| N/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| N/Q | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| N/R | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| N/S | 0.9062 | likely_pathogenic | 0.9139 | pathogenic | -1.247 | Destabilizing | 0.999 | D | 0.625 | neutral | N | 0.51639284 | None | None | N |
| N/T | 0.9718 | likely_pathogenic | 0.9722 | pathogenic | -0.883 | Destabilizing | 0.999 | D | 0.749 | deleterious | N | 0.513324513 | None | None | N |
| N/V | 0.9953 | likely_pathogenic | 0.9963 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| N/Y | 0.9929 | likely_pathogenic | 0.9945 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.565784989 | 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.