Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35783 | 107572;107573;107574 | chr2:178528304;178528303;178528302 | chr2:179393031;179393030;179393029 |
| N2AB | 34142 | 102649;102650;102651 | chr2:178528304;178528303;178528302 | chr2:179393031;179393030;179393029 |
| N2A | 33215 | 99868;99869;99870 | chr2:178528304;178528303;178528302 | chr2:179393031;179393030;179393029 |
| N2B | 26718 | 80377;80378;80379 | chr2:178528304;178528303;178528302 | chr2:179393031;179393030;179393029 |
| Novex-1 | 26843 | 80752;80753;80754 | chr2:178528304;178528303;178528302 | chr2:179393031;179393030;179393029 |
| Novex-2 | 26910 | 80953;80954;80955 | chr2:178528304;178528303;178528302 | chr2:179393031;179393030;179393029 |
| 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/R | rs1389761673  |
-0.585 | 1.0 | N | 0.85 | 0.528 | 0.75536777802 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87687E-04 | 0 | 0 |
| C/R | rs1389761673 |
-0.585 | 1.0 | N | 0.85 | 0.528 | 0.75536777802 | gnomAD-4.0.0 | 1.59112E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.88246E-05 | 0 | 0 | 0 | 0 |
| C/Y | None | None | 1.0 | N | 0.85 | 0.51 | 0.772125089601 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5994 | likely_pathogenic | 0.6425 | pathogenic | -1.505 | Destabilizing | 0.998 | D | 0.561 | neutral | None | None | None | None | I |
| C/D | 0.8926 | likely_pathogenic | 0.9238 | pathogenic | 0.03 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| C/E | 0.9482 | likely_pathogenic | 0.9632 | pathogenic | 0.128 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| C/F | 0.5222 | ambiguous | 0.5583 | ambiguous | -0.907 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.465506401 | None | None | I |
| C/G | 0.4282 | ambiguous | 0.4704 | ambiguous | -1.802 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.438762516 | None | None | I |
| C/H | 0.8092 | likely_pathogenic | 0.8574 | pathogenic | -1.721 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| C/I | 0.7552 | likely_pathogenic | 0.7673 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| C/K | 0.9418 | likely_pathogenic | 0.9532 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| C/L | 0.7616 | likely_pathogenic | 0.7739 | pathogenic | -0.751 | Destabilizing | 0.999 | D | 0.6 | neutral | None | None | None | None | I |
| C/M | 0.8618 | likely_pathogenic | 0.8771 | pathogenic | 0.058 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| C/N | 0.7857 | likely_pathogenic | 0.8424 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| C/P | 0.9938 | likely_pathogenic | 0.9968 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| C/Q | 0.8712 | likely_pathogenic | 0.9053 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| C/R | 0.7524 | likely_pathogenic | 0.7897 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.419309964 | None | None | I |
| C/S | 0.4785 | ambiguous | 0.558 | ambiguous | -1.216 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.392296721 | None | None | I |
| C/T | 0.6542 | likely_pathogenic | 0.7005 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| C/V | 0.6264 | likely_pathogenic | 0.6459 | pathogenic | -0.976 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | None | None | None | None | I |
| C/W | 0.8433 | likely_pathogenic | 0.8794 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.476454113 | None | None | I |
| C/Y | 0.5877 | likely_pathogenic | 0.649 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.446747281 | 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.