Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19401 | 58426;58427;58428 | chr2:178594192;178594191;178594190 | chr2:179458919;179458918;179458917 |
| N2AB | 17760 | 53503;53504;53505 | chr2:178594192;178594191;178594190 | chr2:179458919;179458918;179458917 |
| N2A | 16833 | 50722;50723;50724 | chr2:178594192;178594191;178594190 | chr2:179458919;179458918;179458917 |
| N2B | 10336 | 31231;31232;31233 | chr2:178594192;178594191;178594190 | chr2:179458919;179458918;179458917 |
| Novex-1 | 10461 | 31606;31607;31608 | chr2:178594192;178594191;178594190 | chr2:179458919;179458918;179458917 |
| Novex-2 | 10528 | 31807;31808;31809 | chr2:178594192;178594191;178594190 | chr2:179458919;179458918;179458917 |
| 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/S | rs764852395  |
-0.86 | 1.0 | D | 0.807 | 0.547 | 0.69826984155 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/S | rs764852395 |
-0.86 | 1.0 | D | 0.807 | 0.547 | 0.69826984155 | gnomAD-4.0.0 | 7.9614E-06 | None | None | None | None | I | None | 0 | 2.28896E-05 | None | 0 | 2.78567E-05 | None | 0 | 0 | 8.57834E-06 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.821 | 0.603 | 0.882537766975 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.709 | likely_pathogenic | 0.705 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.616396698 | None | None | I |
| G/C | 0.7834 | likely_pathogenic | 0.7969 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.633021472 | None | None | I |
| G/D | 0.4993 | ambiguous | 0.469 | ambiguous | -0.82 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.571367474 | None | None | I |
| G/E | 0.736 | likely_pathogenic | 0.698 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/F | 0.9764 | likely_pathogenic | 0.9746 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/H | 0.912 | likely_pathogenic | 0.8993 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/I | 0.9803 | likely_pathogenic | 0.978 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/K | 0.9372 | likely_pathogenic | 0.9202 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/L | 0.946 | likely_pathogenic | 0.9446 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/M | 0.9629 | likely_pathogenic | 0.9599 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/N | 0.5985 | likely_pathogenic | 0.5721 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/P | 0.9954 | likely_pathogenic | 0.9942 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/Q | 0.8697 | likely_pathogenic | 0.8524 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/R | 0.8808 | likely_pathogenic | 0.8607 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.607311916 | None | None | I |
| G/S | 0.3857 | ambiguous | 0.3719 | ambiguous | -0.941 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.583924007 | None | None | I |
| G/T | 0.8168 | likely_pathogenic | 0.7899 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/V | 0.9552 | likely_pathogenic | 0.9517 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.616800307 | None | None | I |
| G/W | 0.916 | likely_pathogenic | 0.9093 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/Y | 0.9437 | likely_pathogenic | 0.942 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.816 | 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.