Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33676 | 101251;101252;101253 | chr2:178535589;178535588;178535587 | chr2:179400316;179400315;179400314 |
| N2AB | 32035 | 96328;96329;96330 | chr2:178535589;178535588;178535587 | chr2:179400316;179400315;179400314 |
| N2A | 31108 | 93547;93548;93549 | chr2:178535589;178535588;178535587 | chr2:179400316;179400315;179400314 |
| N2B | 24611 | 74056;74057;74058 | chr2:178535589;178535588;178535587 | chr2:179400316;179400315;179400314 |
| Novex-1 | 24736 | 74431;74432;74433 | chr2:178535589;178535588;178535587 | chr2:179400316;179400315;179400314 |
| Novex-2 | 24803 | 74632;74633;74634 | chr2:178535589;178535588;178535587 | chr2:179400316;179400315;179400314 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs368894429  |
-0.751 | 1.0 | D | 0.834 | 0.755 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 1.29199E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs368894429 |
-0.751 | 1.0 | D | 0.834 | 0.755 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs368894429 |
-0.751 | 1.0 | D | 0.834 | 0.755 | None | gnomAD-4.0.0 | 1.97138E-05 | None | None | None | None | I | None | 7.23764E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs762614257 |
-0.359 | 1.0 | D | 0.865 | 0.769 | 0.866166787405 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9391 | likely_pathogenic | 0.852 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.569958434 | None | None | I |
| G/C | 0.9892 | likely_pathogenic | 0.9554 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/D | 0.992 | likely_pathogenic | 0.9709 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/E | 0.9959 | likely_pathogenic | 0.983 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.53432228 | None | None | I |
| G/F | 0.9984 | likely_pathogenic | 0.9945 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/H | 0.9978 | likely_pathogenic | 0.9906 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/I | 0.9981 | likely_pathogenic | 0.9914 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/K | 0.9984 | likely_pathogenic | 0.9935 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/L | 0.9963 | likely_pathogenic | 0.9865 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/M | 0.9985 | likely_pathogenic | 0.9947 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/N | 0.992 | likely_pathogenic | 0.9727 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9993 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/Q | 0.9951 | likely_pathogenic | 0.9821 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/R | 0.9942 | likely_pathogenic | 0.9778 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.60219896 | None | None | I |
| G/S | 0.9083 | likely_pathogenic | 0.7896 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/T | 0.9868 | likely_pathogenic | 0.9652 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/V | 0.996 | likely_pathogenic | 0.9834 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.602804373 | None | None | I |
| G/W | 0.998 | likely_pathogenic | 0.9925 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Y | 0.9981 | likely_pathogenic | 0.9917 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
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.