Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22132 | 66619;66620;66621 | chr2:178581975;178581974;178581973 | chr2:179446702;179446701;179446700 |
| N2AB | 20491 | 61696;61697;61698 | chr2:178581975;178581974;178581973 | chr2:179446702;179446701;179446700 |
| N2A | 19564 | 58915;58916;58917 | chr2:178581975;178581974;178581973 | chr2:179446702;179446701;179446700 |
| N2B | 13067 | 39424;39425;39426 | chr2:178581975;178581974;178581973 | chr2:179446702;179446701;179446700 |
| Novex-1 | 13192 | 39799;39800;39801 | chr2:178581975;178581974;178581973 | chr2:179446702;179446701;179446700 |
| Novex-2 | 13259 | 40000;40001;40002 | chr2:178581975;178581974;178581973 | chr2:179446702;179446701;179446700 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs2047876545  |
None | 1.0 | D | 0.892 | 0.759 | 0.712308658724 | gnomAD-4.0.0 | 1.59237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86026E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9162 | likely_pathogenic | 0.9149 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| A/D | 0.9986 | likely_pathogenic | 0.9978 | pathogenic | -2.852 | Highly Destabilizing | 1.0 | D | 0.922 | deleterious | D | 0.570915048 | None | None | N |
| A/E | 0.9983 | likely_pathogenic | 0.9973 | pathogenic | -2.642 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/F | 0.9962 | likely_pathogenic | 0.994 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.957 | deleterious | None | None | None | None | N |
| A/G | 0.5409 | ambiguous | 0.48 | ambiguous | -1.766 | Destabilizing | 1.0 | D | 0.636 | neutral | D | 0.528830735 | None | None | N |
| A/H | 0.9986 | likely_pathogenic | 0.998 | pathogenic | -1.93 | Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| A/I | 0.9922 | likely_pathogenic | 0.9889 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| A/K | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/L | 0.9717 | likely_pathogenic | 0.955 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/M | 0.9889 | likely_pathogenic | 0.9839 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| A/N | 0.9957 | likely_pathogenic | 0.9946 | pathogenic | -1.669 | Destabilizing | 1.0 | D | 0.944 | deleterious | None | None | None | None | N |
| A/P | 0.9779 | likely_pathogenic | 0.9718 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.552810793 | None | None | N |
| A/Q | 0.9955 | likely_pathogenic | 0.9933 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| A/R | 0.9975 | likely_pathogenic | 0.996 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/S | 0.4704 | ambiguous | 0.4677 | ambiguous | -2.011 | Highly Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.520054869 | None | None | N |
| A/T | 0.9353 | likely_pathogenic | 0.9075 | pathogenic | -1.686 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.54036117 | None | None | N |
| A/V | 0.9428 | likely_pathogenic | 0.9215 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.536539736 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| A/Y | 0.9982 | likely_pathogenic | 0.9972 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.957 | 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.