Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6786 | 20581;20582;20583 | chr2:178725966;178725965;178725964 | chr2:179590693;179590692;179590691 |
| N2AB | 6469 | 19630;19631;19632 | chr2:178725966;178725965;178725964 | chr2:179590693;179590692;179590691 |
| N2A | 5542 | 16849;16850;16851 | chr2:178725966;178725965;178725964 | chr2:179590693;179590692;179590691 |
| 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 | None | None | 1.0 | D | 0.812 | 0.585 | 0.849335212085 | gnomAD-4.0.0 | 1.59698E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86801E-06 | 0 | 0 |
| G/R | rs1191785544  |
-0.292 | 1.0 | D | 0.805 | 0.622 | 0.894553961046 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| G/R | rs1191785544 |
-0.292 | 1.0 | D | 0.805 | 0.622 | 0.894553961046 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1191785544 |
-0.292 | 1.0 | D | 0.805 | 0.622 | 0.894553961046 | gnomAD-4.0.0 | 2.57061E-06 | None | None | None | None | I | None | 1.69653E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34789E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8585 | likely_pathogenic | 0.7688 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.552553214 | None | None | I |
| G/C | 0.99 | likely_pathogenic | 0.9847 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/D | 0.9949 | likely_pathogenic | 0.994 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/E | 0.9956 | likely_pathogenic | 0.9955 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.605790358 | None | None | I |
| G/F | 0.9977 | likely_pathogenic | 0.9972 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| G/H | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| G/I | 0.9952 | likely_pathogenic | 0.9943 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/K | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/L | 0.9957 | likely_pathogenic | 0.9944 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/M | 0.998 | likely_pathogenic | 0.9973 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/N | 0.9961 | likely_pathogenic | 0.995 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -0.003 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/Q | 0.9967 | likely_pathogenic | 0.9961 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/R | 0.9929 | likely_pathogenic | 0.9923 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.612905305 | None | None | I |
| G/S | 0.9169 | likely_pathogenic | 0.8658 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/T | 0.9877 | likely_pathogenic | 0.982 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/V | 0.9877 | likely_pathogenic | 0.9846 | pathogenic | -0.003 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.638443416 | None | None | I |
| G/W | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/Y | 0.998 | likely_pathogenic | 0.9975 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
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.