Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25180 | 75763;75764;75765 | chr2:178570594;178570593;178570592 | chr2:179435321;179435320;179435319 |
| N2AB | 23539 | 70840;70841;70842 | chr2:178570594;178570593;178570592 | chr2:179435321;179435320;179435319 |
| N2A | 22612 | 68059;68060;68061 | chr2:178570594;178570593;178570592 | chr2:179435321;179435320;179435319 |
| N2B | 16115 | 48568;48569;48570 | chr2:178570594;178570593;178570592 | chr2:179435321;179435320;179435319 |
| Novex-1 | 16240 | 48943;48944;48945 | chr2:178570594;178570593;178570592 | chr2:179435321;179435320;179435319 |
| Novex-2 | 16307 | 49144;49145;49146 | chr2:178570594;178570593;178570592 | chr2:179435321;179435320;179435319 |
| 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/R | rs757992100  |
-0.614 | 1.0 | D | 0.807 | 0.814 | 0.815405896192 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.12108E-04 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs757992100 |
-0.614 | 1.0 | D | 0.807 | 0.814 | 0.815405896192 | gnomAD-4.0.0 | 4.79047E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.51592E-04 | None | 0 | 0 | 0 | 0 | 1.65706E-05 |
| G/V | rs745329154 |
-0.109 | 1.0 | D | 0.775 | 0.811 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| G/V | rs745329154 |
-0.109 | 1.0 | D | 0.775 | 0.811 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs745329154 |
-0.109 | 1.0 | D | 0.775 | 0.811 | None | gnomAD-4.0.0 | 1.54961E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.11935E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5535 | ambiguous | 0.5968 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.589328105 | None | None | I |
| G/C | 0.7844 | likely_pathogenic | 0.8401 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| G/D | 0.898 | likely_pathogenic | 0.9294 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/E | 0.9404 | likely_pathogenic | 0.9591 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.649730198 | None | None | I |
| G/F | 0.9835 | likely_pathogenic | 0.9891 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/H | 0.9771 | likely_pathogenic | 0.9844 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | I |
| G/I | 0.9811 | likely_pathogenic | 0.9865 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/K | 0.9696 | likely_pathogenic | 0.9807 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/L | 0.971 | likely_pathogenic | 0.9792 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/M | 0.9749 | likely_pathogenic | 0.9831 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| G/N | 0.9253 | likely_pathogenic | 0.9426 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/P | 0.998 | likely_pathogenic | 0.9987 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/Q | 0.9258 | likely_pathogenic | 0.946 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/R | 0.9136 | likely_pathogenic | 0.9421 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.649528394 | None | None | I |
| G/S | 0.4682 | ambiguous | 0.4937 | ambiguous | -1.111 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/T | 0.8852 | likely_pathogenic | 0.9075 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/V | 0.9523 | likely_pathogenic | 0.9656 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.649730198 | None | None | I |
| G/W | 0.9718 | likely_pathogenic | 0.9827 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| G/Y | 0.9805 | likely_pathogenic | 0.9871 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.745 | 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.