Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8726 | 26401;26402;26403 | chr2:178715010;178715009;178715008 | chr2:179579737;179579736;179579735 |
| N2AB | 8409 | 25450;25451;25452 | chr2:178715010;178715009;178715008 | chr2:179579737;179579736;179579735 |
| N2A | 7482 | 22669;22670;22671 | chr2:178715010;178715009;178715008 | chr2:179579737;179579736;179579735 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/W | None | None | 1.0 | N | 0.778 | 0.352 | 0.339793275041 | gnomAD-4.0.0 | 2.05571E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70172E-06 | 0 | 0 |
| C/Y | rs786205399  |
-1.634 | 1.0 | N | 0.814 | 0.386 | 0.805492851202 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs786205399 |
-1.634 | 1.0 | N | 0.814 | 0.386 | 0.805492851202 | 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 |
| C/Y | rs786205399 |
-1.634 | 1.0 | N | 0.814 | 0.386 | 0.805492851202 | gnomAD-4.0.0 | 2.02991E-06 | None | None | None | None | N | None | 1.74715E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20494E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4995 | ambiguous | 0.6073 | pathogenic | -2.045 | Highly Destabilizing | 0.964 | D | 0.621 | neutral | None | None | None | None | N |
| C/D | 0.9402 | likely_pathogenic | 0.975 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| C/E | 0.9796 | likely_pathogenic | 0.9895 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| C/F | 0.5946 | likely_pathogenic | 0.7107 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.505051259 | None | None | N |
| C/G | 0.3872 | ambiguous | 0.5444 | ambiguous | -2.387 | Highly Destabilizing | 0.986 | D | 0.802 | deleterious | N | 0.486947004 | None | None | N |
| C/H | 0.9057 | likely_pathogenic | 0.952 | pathogenic | -2.349 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| C/I | 0.7561 | likely_pathogenic | 0.8405 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| C/K | 0.9873 | likely_pathogenic | 0.9948 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| C/L | 0.7663 | likely_pathogenic | 0.84 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| C/M | 0.8438 | likely_pathogenic | 0.878 | pathogenic | 0.078 | Stabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| C/N | 0.8851 | likely_pathogenic | 0.9406 | pathogenic | -1.625 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| C/P | 0.9939 | likely_pathogenic | 0.9975 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| C/Q | 0.9469 | likely_pathogenic | 0.9713 | pathogenic | -1.41 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| C/R | 0.8972 | likely_pathogenic | 0.9536 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.530960601 | None | None | N |
| C/S | 0.3692 | ambiguous | 0.502 | ambiguous | -2.139 | Highly Destabilizing | 0.792 | D | 0.537 | neutral | N | 0.482531936 | None | None | N |
| C/T | 0.5963 | likely_pathogenic | 0.6942 | pathogenic | -1.803 | Destabilizing | 0.992 | D | 0.757 | deleterious | None | None | None | None | N |
| C/V | 0.6276 | likely_pathogenic | 0.7186 | pathogenic | -1.414 | Destabilizing | 0.997 | D | 0.77 | deleterious | None | None | None | None | N |
| C/W | 0.8742 | likely_pathogenic | 0.9372 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.505811728 | None | None | N |
| C/Y | 0.7975 | likely_pathogenic | 0.8934 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.516825638 | 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.