Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19514 | 58765;58766;58767 | chr2:178593760;178593759;178593758 | chr2:179458487;179458486;179458485 |
| N2AB | 17873 | 53842;53843;53844 | chr2:178593760;178593759;178593758 | chr2:179458487;179458486;179458485 |
| N2A | 16946 | 51061;51062;51063 | chr2:178593760;178593759;178593758 | chr2:179458487;179458486;179458485 |
| N2B | 10449 | 31570;31571;31572 | chr2:178593760;178593759;178593758 | chr2:179458487;179458486;179458485 |
| Novex-1 | 10574 | 31945;31946;31947 | chr2:178593760;178593759;178593758 | chr2:179458487;179458486;179458485 |
| Novex-2 | 10641 | 32146;32147;32148 | chr2:178593760;178593759;178593758 | chr2:179458487;179458486;179458485 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs765019992  |
-1.593 | 0.892 | N | 0.467 | 0.468 | 0.338110398507 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.12511E-04 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs765019992 |
-1.593 | 0.892 | N | 0.467 | 0.468 | 0.338110398507 | gnomAD-4.0.0 | 6.84408E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52921E-05 | None | 0 | 0 | 0 | 0 | 0 |
| N/H | None | None | 0.994 | D | 0.522 | 0.45 | 0.349870743963 | gnomAD-4.0.0 | 6.84408E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99578E-07 | 0 | 0 |
| N/S | rs761612554 |
-0.97 | 0.805 | N | 0.493 | 0.235 | 0.188950314367 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| N/S | rs761612554 |
-0.97 | 0.805 | N | 0.493 | 0.235 | 0.188950314367 | gnomAD-4.0.0 | 2.05323E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69873E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.7417 | likely_pathogenic | 0.7421 | pathogenic | -1.121 | Destabilizing | 0.845 | D | 0.527 | neutral | None | None | None | None | N |
| N/C | 0.6182 | likely_pathogenic | 0.5662 | pathogenic | -0.343 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| N/D | 0.6571 | likely_pathogenic | 0.6991 | pathogenic | -0.991 | Destabilizing | 0.892 | D | 0.467 | neutral | N | 0.484041763 | None | None | N |
| N/E | 0.9531 | likely_pathogenic | 0.9626 | pathogenic | -0.898 | Destabilizing | 0.916 | D | 0.491 | neutral | None | None | None | None | N |
| N/F | 0.9697 | likely_pathogenic | 0.9674 | pathogenic | -1.044 | Destabilizing | 0.987 | D | 0.767 | deleterious | None | None | None | None | N |
| N/G | 0.5634 | ambiguous | 0.5404 | ambiguous | -1.423 | Destabilizing | 0.916 | D | 0.439 | neutral | None | None | None | None | N |
| N/H | 0.3616 | ambiguous | 0.3552 | ambiguous | -1.112 | Destabilizing | 0.994 | D | 0.522 | neutral | D | 0.52407941 | None | None | N |
| N/I | 0.9572 | likely_pathogenic | 0.9624 | pathogenic | -0.355 | Destabilizing | 0.967 | D | 0.757 | deleterious | N | 0.519289222 | None | None | N |
| N/K | 0.909 | likely_pathogenic | 0.931 | pathogenic | -0.215 | Destabilizing | 0.892 | D | 0.487 | neutral | N | 0.471645046 | None | None | N |
| N/L | 0.9051 | likely_pathogenic | 0.918 | pathogenic | -0.355 | Destabilizing | 0.95 | D | 0.703 | prob.neutral | None | None | None | None | N |
| N/M | 0.9446 | likely_pathogenic | 0.9505 | pathogenic | 0.194 | Stabilizing | 0.997 | D | 0.674 | neutral | None | None | None | None | N |
| N/P | 0.993 | likely_pathogenic | 0.9916 | pathogenic | -0.583 | Destabilizing | 0.987 | D | 0.689 | prob.neutral | None | None | None | None | N |
| N/Q | 0.8756 | likely_pathogenic | 0.8951 | pathogenic | -1.022 | Destabilizing | 0.987 | D | 0.539 | neutral | None | None | None | None | N |
| N/R | 0.8219 | likely_pathogenic | 0.8571 | pathogenic | -0.103 | Destabilizing | 0.975 | D | 0.512 | neutral | None | None | None | None | N |
| N/S | 0.1627 | likely_benign | 0.1533 | benign | -0.959 | Destabilizing | 0.805 | D | 0.493 | neutral | N | 0.503568064 | None | None | N |
| N/T | 0.6674 | likely_pathogenic | 0.7104 | pathogenic | -0.681 | Destabilizing | 0.025 | N | 0.309 | neutral | N | 0.473419473 | None | None | N |
| N/V | 0.9242 | likely_pathogenic | 0.9322 | pathogenic | -0.583 | Destabilizing | 0.95 | D | 0.704 | prob.neutral | None | None | None | None | N |
| N/W | 0.9839 | likely_pathogenic | 0.9814 | pathogenic | -0.748 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| N/Y | 0.682 | likely_pathogenic | 0.6707 | pathogenic | -0.523 | Destabilizing | 0.994 | D | 0.704 | prob.neutral | N | 0.486434846 | 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.