Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35011 | 105256;105257;105258 | chr2:178531584;178531583;178531582 | chr2:179396311;179396310;179396309 |
| N2AB | 33370 | 100333;100334;100335 | chr2:178531584;178531583;178531582 | chr2:179396311;179396310;179396309 |
| N2A | 32443 | 97552;97553;97554 | chr2:178531584;178531583;178531582 | chr2:179396311;179396310;179396309 |
| N2B | 25946 | 78061;78062;78063 | chr2:178531584;178531583;178531582 | chr2:179396311;179396310;179396309 |
| Novex-1 | 26071 | 78436;78437;78438 | chr2:178531584;178531583;178531582 | chr2:179396311;179396310;179396309 |
| Novex-2 | 26138 | 78637;78638;78639 | chr2:178531584;178531583;178531582 | chr2:179396311;179396310;179396309 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs533966614  |
-1.118 | 0.999 | N | 0.58 | 0.257 | 0.434934176536 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs533966614 |
-1.118 | 0.999 | N | 0.58 | 0.257 | 0.434934176536 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs533966614 |
-1.118 | 0.999 | N | 0.58 | 0.257 | 0.434934176536 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/A | rs533966614 |
-1.118 | 0.999 | N | 0.58 | 0.257 | 0.434934176536 | gnomAD-4.0.0 | 3.71752E-06 | None | None | None | None | N | None | 2.66581E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39015E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4195 | ambiguous | 0.4315 | ambiguous | -1.06 | Destabilizing | 0.999 | D | 0.58 | neutral | N | 0.502947281 | None | None | N |
| T/C | 0.8523 | likely_pathogenic | 0.859 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| T/D | 0.9141 | likely_pathogenic | 0.9252 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/E | 0.8905 | likely_pathogenic | 0.9092 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/F | 0.7951 | likely_pathogenic | 0.8331 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| T/G | 0.8231 | likely_pathogenic | 0.8337 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/H | 0.7872 | likely_pathogenic | 0.8173 | pathogenic | -1.656 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/I | 0.4981 | ambiguous | 0.5208 | ambiguous | -0.224 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.515511146 | None | None | N |
| T/K | 0.8027 | likely_pathogenic | 0.8276 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/L | 0.4234 | ambiguous | 0.4499 | ambiguous | -0.224 | Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| T/M | 0.326 | likely_benign | 0.3635 | ambiguous | 0.161 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/N | 0.5085 | ambiguous | 0.5345 | ambiguous | -1.033 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.515684505 | None | None | N |
| T/P | 0.5547 | ambiguous | 0.6034 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.512773487 | None | None | N |
| T/Q | 0.7591 | likely_pathogenic | 0.796 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/R | 0.7377 | likely_pathogenic | 0.7634 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/S | 0.418 | ambiguous | 0.4611 | ambiguous | -1.277 | Destabilizing | 0.999 | D | 0.563 | neutral | N | 0.500445693 | None | None | N |
| T/V | 0.3946 | ambiguous | 0.4219 | ambiguous | -0.47 | Destabilizing | 0.999 | D | 0.6 | neutral | None | None | None | None | N |
| T/W | 0.94 | likely_pathogenic | 0.9515 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/Y | 0.8127 | likely_pathogenic | 0.8328 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.782 | 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.