Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30471 | 91636;91637;91638 | chr2:178551120;178551119;178551118 | chr2:179415847;179415846;179415845 |
| N2AB | 28830 | 86713;86714;86715 | chr2:178551120;178551119;178551118 | chr2:179415847;179415846;179415845 |
| N2A | 27903 | 83932;83933;83934 | chr2:178551120;178551119;178551118 | chr2:179415847;179415846;179415845 |
| N2B | 21406 | 64441;64442;64443 | chr2:178551120;178551119;178551118 | chr2:179415847;179415846;179415845 |
| Novex-1 | 21531 | 64816;64817;64818 | chr2:178551120;178551119;178551118 | chr2:179415847;179415846;179415845 |
| Novex-2 | 21598 | 65017;65018;65019 | chr2:178551120;178551119;178551118 | chr2:179415847;179415846;179415845 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs1699261466  |
None | 1.0 | N | 0.725 | 0.481 | 0.683316155328 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 1.30993E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 9.56023E-04 |
| C/S | rs1699261466 |
None | 1.0 | N | 0.725 | 0.481 | 0.683316155328 | gnomAD-4.0.0 | 3.42175E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49788E-06 | 0 | 0 |
| C/Y | None | None | 1.0 | N | 0.821 | 0.42 | 0.732448402608 | gnomAD-4.0.0 | 6.84349E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15966E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4788 | ambiguous | 0.5261 | ambiguous | -1.842 | Destabilizing | 0.998 | D | 0.524 | neutral | None | None | None | None | N |
| C/D | 0.9858 | likely_pathogenic | 0.9899 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| C/E | 0.9897 | likely_pathogenic | 0.9922 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| C/F | 0.7639 | likely_pathogenic | 0.7981 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.465907374 | None | None | N |
| C/G | 0.4878 | ambiguous | 0.5651 | pathogenic | -2.184 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.48358401 | None | None | N |
| C/H | 0.9491 | likely_pathogenic | 0.9549 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| C/I | 0.774 | likely_pathogenic | 0.8115 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| C/K | 0.9947 | likely_pathogenic | 0.9962 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| C/L | 0.8135 | likely_pathogenic | 0.8506 | pathogenic | -0.931 | Destabilizing | 0.999 | D | 0.538 | neutral | None | None | None | None | N |
| C/M | 0.8692 | likely_pathogenic | 0.8893 | pathogenic | 0.208 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| C/N | 0.906 | likely_pathogenic | 0.9245 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| C/P | 0.9932 | likely_pathogenic | 0.9948 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| C/Q | 0.9659 | likely_pathogenic | 0.9737 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| C/R | 0.9677 | likely_pathogenic | 0.9782 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.499913838 | None | None | N |
| C/S | 0.4558 | ambiguous | 0.5093 | ambiguous | -1.83 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.467428311 | None | None | N |
| C/T | 0.6548 | likely_pathogenic | 0.7019 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| C/V | 0.5832 | likely_pathogenic | 0.622 | pathogenic | -1.211 | Destabilizing | 0.999 | D | 0.628 | neutral | None | None | None | None | N |
| C/W | 0.9437 | likely_pathogenic | 0.9566 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.514058528 | None | None | N |
| C/Y | 0.8738 | likely_pathogenic | 0.8953 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.478304091 | 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.