Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2962 | 9109;9110;9111 | chr2:178769697;178769696;178769695 | chr2:179634424;179634423;179634422 |
| N2AB | 2962 | 9109;9110;9111 | chr2:178769697;178769696;178769695 | chr2:179634424;179634423;179634422 |
| N2A | 2962 | 9109;9110;9111 | chr2:178769697;178769696;178769695 | chr2:179634424;179634423;179634422 |
| N2B | 2916 | 8971;8972;8973 | chr2:178769697;178769696;178769695 | chr2:179634424;179634423;179634422 |
| Novex-1 | 2916 | 8971;8972;8973 | chr2:178769697;178769696;178769695 | chr2:179634424;179634423;179634422 |
| Novex-2 | 2916 | 8971;8972;8973 | chr2:178769697;178769696;178769695 | chr2:179634424;179634423;179634422 |
| Novex-3 | 2962 | 9109;9110;9111 | chr2:178769697;178769696;178769695 | chr2:179634424;179634423;179634422 |
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/D | rs1234280033  |
-1.609 | 1.0 | D | 0.866 | 0.807 | 0.858568201941 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/D | rs1234280033 |
-1.609 | 1.0 | D | 0.866 | 0.807 | 0.858568201941 | gnomAD-4.0.0 | 1.59199E-06 | None | None | None | None | N | None | 0 | 2.28718E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs765523736 |
-0.626 | 1.0 | D | 0.844 | 0.776 | None | gnomAD-2.1.1 | 3.88594E-04 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 5.59E-05 | None | 6.55E-05 | None | 3.4763E-03 | 1.4817E-04 | 5.07442E-04 |
| A/P | rs765523736 |
-0.626 | 1.0 | D | 0.844 | 0.776 | None | gnomAD-4.0.0 | 8.22534E-06 | None | None | None | None | N | None | 0 | 6.75919E-05 | None | 0 | 1.01107E-04 | None | 5.75727E-05 | 0 | 8.99879E-07 | 0 | 1.66168E-05 |
| A/T | rs765523736 |
-1.36 | 1.0 | D | 0.666 | 0.604 | None | gnomAD-4.0.0 | 4.7976E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29892E-06 | 0 | 0 |
| A/V | None | None | 1.0 | D | 0.59 | 0.615 | 0.709893862867 | gnomAD-4.0.0 | 1.59199E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02517E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8495 | likely_pathogenic | 0.8725 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| A/D | 0.9868 | likely_pathogenic | 0.988 | pathogenic | -2.139 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.778516063 | None | None | N |
| A/E | 0.9859 | likely_pathogenic | 0.9871 | pathogenic | -2.056 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/F | 0.9902 | likely_pathogenic | 0.9912 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/G | 0.4039 | ambiguous | 0.3881 | ambiguous | -1.49 | Destabilizing | 1.0 | D | 0.525 | neutral | D | 0.652978489 | None | None | N |
| A/H | 0.9917 | likely_pathogenic | 0.9931 | pathogenic | -1.8 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/I | 0.978 | likely_pathogenic | 0.9843 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/K | 0.9937 | likely_pathogenic | 0.995 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/L | 0.9513 | likely_pathogenic | 0.9598 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| A/M | 0.9491 | likely_pathogenic | 0.9578 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/N | 0.9746 | likely_pathogenic | 0.9757 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/P | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.778450598 | None | None | N |
| A/Q | 0.9741 | likely_pathogenic | 0.9767 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/R | 0.9801 | likely_pathogenic | 0.983 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/S | 0.2691 | likely_benign | 0.2731 | benign | -1.744 | Destabilizing | 1.0 | D | 0.535 | neutral | D | 0.704240019 | None | None | N |
| A/T | 0.5928 | likely_pathogenic | 0.6218 | pathogenic | -1.553 | Destabilizing | 1.0 | D | 0.666 | neutral | D | 0.632346671 | None | None | N |
| A/V | 0.851 | likely_pathogenic | 0.8835 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.59 | neutral | D | 0.686999641 | None | None | N |
| A/W | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.607 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/Y | 0.9941 | likely_pathogenic | 0.9948 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.874 | 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.