Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30305 | 91138;91139;91140 | chr2:178551987;178551986;178551985 | chr2:179416714;179416713;179416712 |
| N2AB | 28664 | 86215;86216;86217 | chr2:178551987;178551986;178551985 | chr2:179416714;179416713;179416712 |
| N2A | 27737 | 83434;83435;83436 | chr2:178551987;178551986;178551985 | chr2:179416714;179416713;179416712 |
| N2B | 21240 | 63943;63944;63945 | chr2:178551987;178551986;178551985 | chr2:179416714;179416713;179416712 |
| Novex-1 | 21365 | 64318;64319;64320 | chr2:178551987;178551986;178551985 | chr2:179416714;179416713;179416712 |
| Novex-2 | 21432 | 64519;64520;64521 | chr2:178551987;178551986;178551985 | chr2:179416714;179416713;179416712 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs544353741  |
0.109 | 1.0 | N | 0.703 | 0.509 | 0.312306559268 | gnomAD-2.1.1 | 1.44928E-04 | None | None | None | None | I | None | 0 | 8.71E-05 | None | 0 | 0 | None | 1.08183E-03 | None | 0 | 0 | 0 |
| Y/H | rs544353741 |
0.109 | 1.0 | N | 0.703 | 0.509 | 0.312306559268 | gnomAD-3.1.2 | 1.11758E-04 | None | None | None | None | I | None | 2.41E-05 | 1.31165E-04 | 0 | 0 | 1.9305E-04 | None | 0 | 0 | 0 | 2.69486E-03 | 0 |
| Y/H | rs544353741 |
0.109 | 1.0 | N | 0.703 | 0.509 | 0.312306559268 | 1000 genomes | 1.39776E-03 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 7.2E-03 | None |
| Y/H | rs544353741 |
0.109 | 1.0 | N | 0.703 | 0.509 | 0.312306559268 | gnomAD-4.0.0 | 7.32062E-05 | None | None | None | None | I | None | 1.3334E-05 | 8.33917E-05 | None | 0 | 2.23214E-05 | None | 0 | 0 | 0 | 1.15385E-03 | 9.61569E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9703 | likely_pathogenic | 0.9639 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| Y/C | 0.6886 | likely_pathogenic | 0.6332 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.795 | deleterious | N | 0.46905138 | None | None | I |
| Y/D | 0.9443 | likely_pathogenic | 0.9311 | pathogenic | 0.857 | Stabilizing | 1.0 | D | 0.772 | deleterious | N | 0.489229096 | None | None | I |
| Y/E | 0.9879 | likely_pathogenic | 0.9832 | pathogenic | 0.85 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| Y/F | 0.1331 | likely_benign | 0.1279 | benign | -0.479 | Destabilizing | 0.999 | D | 0.503 | neutral | N | 0.465647181 | None | None | I |
| Y/G | 0.9447 | likely_pathogenic | 0.9363 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| Y/H | 0.7369 | likely_pathogenic | 0.692 | pathogenic | 0.059 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.472556872 | None | None | I |
| Y/I | 0.9381 | likely_pathogenic | 0.9089 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| Y/K | 0.9854 | likely_pathogenic | 0.9802 | pathogenic | 0.091 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| Y/L | 0.8793 | likely_pathogenic | 0.8528 | pathogenic | -0.394 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | I |
| Y/M | 0.9501 | likely_pathogenic | 0.9297 | pathogenic | -0.182 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| Y/N | 0.8198 | likely_pathogenic | 0.7715 | pathogenic | -0.088 | Destabilizing | 1.0 | D | 0.786 | deleterious | N | 0.48372214 | None | None | I |
| Y/P | 0.9953 | likely_pathogenic | 0.9951 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| Y/Q | 0.9747 | likely_pathogenic | 0.967 | pathogenic | -0.054 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| Y/R | 0.9601 | likely_pathogenic | 0.9522 | pathogenic | 0.398 | Stabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| Y/S | 0.9096 | likely_pathogenic | 0.8895 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.482836768 | None | None | I |
| Y/T | 0.9738 | likely_pathogenic | 0.9668 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| Y/V | 0.9063 | likely_pathogenic | 0.8759 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| Y/W | 0.6491 | likely_pathogenic | 0.6212 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | 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.