Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9411 | 28456;28457;28458 | chr2:178710866;178710865;178710864 | chr2:179575593;179575592;179575591 |
| N2AB | 9094 | 27505;27506;27507 | chr2:178710866;178710865;178710864 | chr2:179575593;179575592;179575591 |
| N2A | 8167 | 24724;24725;24726 | chr2:178710866;178710865;178710864 | chr2:179575593;179575592;179575591 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs563866126  |
-0.613 | 1.0 | None | 0.843 | 0.608 | 0.872760564413 | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 2.47995E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs563866126 |
-0.613 | 1.0 | None | 0.843 | 0.608 | 0.872760564413 | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | N | None | 2.17234E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs563866126 |
-0.613 | 1.0 | None | 0.843 | 0.608 | 0.872760564413 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/E | rs563866126 |
-0.613 | 1.0 | None | 0.843 | 0.608 | 0.872760564413 | gnomAD-4.0.0 | 1.05335E-05 | None | None | None | None | N | None | 1.86602E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69516E-06 | 0 | 1.60041E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4505 | ambiguous | 0.4571 | ambiguous | -0.333 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/C | 0.7125 | likely_pathogenic | 0.7147 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/D | 0.4182 | ambiguous | 0.4317 | ambiguous | -0.61 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/E | 0.5111 | ambiguous | 0.5241 | ambiguous | -0.765 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/F | 0.9156 | likely_pathogenic | 0.8963 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/H | 0.7934 | likely_pathogenic | 0.7964 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/I | 0.9073 | likely_pathogenic | 0.9034 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/K | 0.8313 | likely_pathogenic | 0.8352 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/L | 0.8231 | likely_pathogenic | 0.8249 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/M | 0.8618 | likely_pathogenic | 0.8651 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/N | 0.4834 | ambiguous | 0.5148 | ambiguous | -0.602 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/P | 0.9817 | likely_pathogenic | 0.9801 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/Q | 0.6754 | likely_pathogenic | 0.6974 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/R | 0.7033 | likely_pathogenic | 0.6913 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| G/S | 0.2189 | likely_benign | 0.2266 | benign | -0.762 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/T | 0.5374 | ambiguous | 0.5467 | ambiguous | -0.846 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/V | 0.8205 | likely_pathogenic | 0.8123 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/W | 0.7646 | likely_pathogenic | 0.7319 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/Y | 0.8352 | likely_pathogenic | 0.8129 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.84 | 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.