Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25339 | 76240;76241;76242 | chr2:178570117;178570116;178570115 | chr2:179434844;179434843;179434842 |
| N2AB | 23698 | 71317;71318;71319 | chr2:178570117;178570116;178570115 | chr2:179434844;179434843;179434842 |
| N2A | 22771 | 68536;68537;68538 | chr2:178570117;178570116;178570115 | chr2:179434844;179434843;179434842 |
| N2B | 16274 | 49045;49046;49047 | chr2:178570117;178570116;178570115 | chr2:179434844;179434843;179434842 |
| Novex-1 | 16399 | 49420;49421;49422 | chr2:178570117;178570116;178570115 | chr2:179434844;179434843;179434842 |
| Novex-2 | 16466 | 49621;49622;49623 | chr2:178570117;178570116;178570115 | chr2:179434844;179434843;179434842 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1485371555  |
-1.365 | 1.0 | D | 0.863 | 0.89 | 0.874236787041 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/C | rs1485371555 |
-1.365 | 1.0 | D | 0.863 | 0.89 | 0.874236787041 | gnomAD-4.0.0 | 1.36863E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99585E-07 | 1.15947E-05 | 0 |
| Y/H | rs1183039680 |
-2.751 | 1.0 | D | 0.797 | 0.864 | 0.751392580583 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs1183039680 |
-2.751 | 1.0 | D | 0.797 | 0.864 | 0.751392580583 | gnomAD-4.0.0 | 1.59186E-06 | None | None | None | None | N | None | 5.66251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9968 | likely_pathogenic | 0.996 | pathogenic | -2.99 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| Y/C | 0.9178 | likely_pathogenic | 0.9116 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.67185369 | None | None | N |
| Y/D | 0.9969 | likely_pathogenic | 0.9956 | pathogenic | -3.512 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.672055494 | None | None | N |
| Y/E | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -3.274 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| Y/F | 0.2281 | likely_benign | 0.3071 | benign | -1.162 | Destabilizing | 0.999 | D | 0.643 | neutral | D | 0.591112188 | None | None | N |
| Y/G | 0.9904 | likely_pathogenic | 0.9879 | pathogenic | -3.42 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| Y/H | 0.9813 | likely_pathogenic | 0.9823 | pathogenic | -2.394 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.65543072 | None | None | N |
| Y/I | 0.9815 | likely_pathogenic | 0.9823 | pathogenic | -1.537 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| Y/K | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.129 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| Y/L | 0.9566 | likely_pathogenic | 0.9505 | pathogenic | -1.537 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| Y/M | 0.9829 | likely_pathogenic | 0.9846 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| Y/N | 0.9809 | likely_pathogenic | 0.9787 | pathogenic | -3.028 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.67185369 | None | None | N |
| Y/P | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| Y/Q | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -2.675 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| Y/R | 0.996 | likely_pathogenic | 0.9953 | pathogenic | -2.167 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/S | 0.9886 | likely_pathogenic | 0.9865 | pathogenic | -3.281 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.67185369 | None | None | N |
| Y/T | 0.996 | likely_pathogenic | 0.9955 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| Y/V | 0.9647 | likely_pathogenic | 0.9631 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| Y/W | 0.8476 | likely_pathogenic | 0.8566 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.782 | 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.