Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15765 | 47518;47519;47520 | chr2:178618058;178618057;178618056 | chr2:179482785;179482784;179482783 |
| N2AB | 14124 | 42595;42596;42597 | chr2:178618058;178618057;178618056 | chr2:179482785;179482784;179482783 |
| N2A | 13197 | 39814;39815;39816 | chr2:178618058;178618057;178618056 | chr2:179482785;179482784;179482783 |
| N2B | 6700 | 20323;20324;20325 | chr2:178618058;178618057;178618056 | chr2:179482785;179482784;179482783 |
| Novex-1 | 6825 | 20698;20699;20700 | chr2:178618058;178618057;178618056 | chr2:179482785;179482784;179482783 |
| Novex-2 | 6892 | 20899;20900;20901 | chr2:178618058;178618057;178618056 | chr2:179482785;179482784;179482783 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs1553710761  |
-0.68 | 0.987 | N | 0.659 | 0.21 | 0.572589462766 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1553710761 |
-0.68 | 0.987 | N | 0.659 | 0.21 | 0.572589462766 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1553710761 |
-0.68 | 0.987 | N | 0.659 | 0.21 | 0.572589462766 | gnomAD-4.0.0 | 6.58198E-06 | None | None | None | None | N | None | 2.41429E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5749 | likely_pathogenic | 0.5857 | pathogenic | -1.815 | Destabilizing | 0.543 | D | 0.381 | neutral | D | 0.621157429 | None | None | N |
| V/C | 0.8816 | likely_pathogenic | 0.8702 | pathogenic | -1.809 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/D | 0.9667 | likely_pathogenic | 0.9667 | pathogenic | -2.475 | Highly Destabilizing | 0.999 | D | 0.848 | deleterious | None | None | None | None | N |
| V/E | 0.9413 | likely_pathogenic | 0.9412 | pathogenic | -2.396 | Highly Destabilizing | 0.998 | D | 0.823 | deleterious | D | 0.672961118 | None | None | N |
| V/F | 0.657 | likely_pathogenic | 0.6422 | pathogenic | -1.405 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| V/G | 0.7423 | likely_pathogenic | 0.7344 | pathogenic | -2.207 | Highly Destabilizing | 0.997 | D | 0.781 | deleterious | D | 0.675128625 | None | None | N |
| V/H | 0.9817 | likely_pathogenic | 0.9796 | pathogenic | -1.844 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/I | 0.1079 | likely_benign | 0.1036 | benign | -0.784 | Destabilizing | 0.987 | D | 0.659 | neutral | N | 0.501911522 | None | None | N |
| V/K | 0.9593 | likely_pathogenic | 0.9545 | pathogenic | -1.479 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| V/L | 0.3344 | likely_benign | 0.2977 | benign | -0.784 | Destabilizing | 0.973 | D | 0.749 | deleterious | N | 0.453641744 | None | None | N |
| V/M | 0.3741 | ambiguous | 0.364 | ambiguous | -0.879 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| V/N | 0.9028 | likely_pathogenic | 0.8931 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/P | 0.7029 | likely_pathogenic | 0.7185 | pathogenic | -1.098 | Destabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | None | N |
| V/Q | 0.9491 | likely_pathogenic | 0.9471 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/R | 0.9491 | likely_pathogenic | 0.9439 | pathogenic | -1.11 | Destabilizing | 0.999 | D | 0.856 | deleterious | None | None | None | None | N |
| V/S | 0.8438 | likely_pathogenic | 0.8413 | pathogenic | -2.119 | Highly Destabilizing | 0.995 | D | 0.777 | deleterious | None | None | None | None | N |
| V/T | 0.6128 | likely_pathogenic | 0.6154 | pathogenic | -1.918 | Destabilizing | 0.992 | D | 0.74 | deleterious | None | None | None | None | N |
| V/W | 0.9905 | likely_pathogenic | 0.9895 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/Y | 0.9583 | likely_pathogenic | 0.9551 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.787 | deleterious | 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.