Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32767 | 98524;98525;98526 | chr2:178539766;178539765;178539764 | chr2:179404493;179404492;179404491 |
| N2AB | 31126 | 93601;93602;93603 | chr2:178539766;178539765;178539764 | chr2:179404493;179404492;179404491 |
| N2A | 30199 | 90820;90821;90822 | chr2:178539766;178539765;178539764 | chr2:179404493;179404492;179404491 |
| N2B | 23702 | 71329;71330;71331 | chr2:178539766;178539765;178539764 | chr2:179404493;179404492;179404491 |
| Novex-1 | 23827 | 71704;71705;71706 | chr2:178539766;178539765;178539764 | chr2:179404493;179404492;179404491 |
| Novex-2 | 23894 | 71905;71906;71907 | chr2:178539766;178539765;178539764 | chr2:179404493;179404492;179404491 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/S | rs995110630  |
-0.142 | 0.98 | N | 0.466 | 0.285 | 0.252681307341 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11433E-04 | None | 0 | None | 0 | 0 | 0 |
| R/S | rs995110630 |
-0.142 | 0.98 | N | 0.466 | 0.285 | 0.252681307341 | gnomAD-4.0.0 | 1.3684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.03931E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7057 | likely_pathogenic | 0.6626 | pathogenic | -0.4 | Destabilizing | 0.964 | D | 0.437 | neutral | None | None | None | None | N |
| R/C | 0.4157 | ambiguous | 0.3458 | ambiguous | -0.395 | Destabilizing | 1.0 | D | 0.551 | neutral | None | None | None | None | N |
| R/D | 0.9132 | likely_pathogenic | 0.8927 | pathogenic | -0.083 | Destabilizing | 0.998 | D | 0.445 | neutral | None | None | None | None | N |
| R/E | 0.6542 | likely_pathogenic | 0.6156 | pathogenic | -0.008 | Destabilizing | 0.985 | D | 0.408 | neutral | None | None | None | None | N |
| R/F | 0.8369 | likely_pathogenic | 0.7834 | pathogenic | -0.533 | Destabilizing | 0.999 | D | 0.539 | neutral | None | None | None | None | N |
| R/G | 0.6671 | likely_pathogenic | 0.6217 | pathogenic | -0.635 | Destabilizing | 0.99 | D | 0.488 | neutral | N | 0.480090246 | None | None | N |
| R/H | 0.2356 | likely_benign | 0.1866 | benign | -1.032 | Destabilizing | 0.999 | D | 0.429 | neutral | None | None | None | None | N |
| R/I | 0.4933 | ambiguous | 0.4611 | ambiguous | 0.199 | Stabilizing | 0.999 | D | 0.54 | neutral | None | None | None | None | N |
| R/K | 0.201 | likely_benign | 0.1847 | benign | -0.45 | Destabilizing | 0.219 | N | 0.198 | neutral | N | 0.472100646 | None | None | N |
| R/L | 0.4932 | ambiguous | 0.4504 | ambiguous | 0.199 | Stabilizing | 0.993 | D | 0.488 | neutral | None | None | None | None | N |
| R/M | 0.5956 | likely_pathogenic | 0.5592 | ambiguous | -0.071 | Destabilizing | 1.0 | D | 0.477 | neutral | N | 0.479583267 | None | None | N |
| R/N | 0.8658 | likely_pathogenic | 0.8374 | pathogenic | 0.005 | Stabilizing | 0.993 | D | 0.434 | neutral | None | None | None | None | N |
| R/P | 0.7657 | likely_pathogenic | 0.7279 | pathogenic | 0.02 | Stabilizing | 0.999 | D | 0.515 | neutral | None | None | None | None | N |
| R/Q | 0.2022 | likely_benign | 0.1803 | benign | -0.199 | Destabilizing | 0.985 | D | 0.451 | neutral | None | None | None | None | N |
| R/S | 0.8281 | likely_pathogenic | 0.7951 | pathogenic | -0.569 | Destabilizing | 0.98 | D | 0.466 | neutral | N | 0.457591445 | None | None | N |
| R/T | 0.5831 | likely_pathogenic | 0.5438 | ambiguous | -0.346 | Destabilizing | 0.99 | D | 0.479 | neutral | N | 0.474214443 | None | None | N |
| R/V | 0.6225 | likely_pathogenic | 0.5926 | pathogenic | 0.02 | Stabilizing | 0.998 | D | 0.472 | neutral | None | None | None | None | N |
| R/W | 0.437 | ambiguous | 0.3591 | ambiguous | -0.394 | Destabilizing | 1.0 | D | 0.591 | neutral | N | 0.480597225 | None | None | N |
| R/Y | 0.7448 | likely_pathogenic | 0.6674 | pathogenic | -0.032 | Destabilizing | 0.999 | D | 0.527 | neutral | 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.