Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23104 | 69535;69536;69537 | chr2:178577025;178577024;178577023 | chr2:179441752;179441751;179441750 |
| N2AB | 21463 | 64612;64613;64614 | chr2:178577025;178577024;178577023 | chr2:179441752;179441751;179441750 |
| N2A | 20536 | 61831;61832;61833 | chr2:178577025;178577024;178577023 | chr2:179441752;179441751;179441750 |
| N2B | 14039 | 42340;42341;42342 | chr2:178577025;178577024;178577023 | chr2:179441752;179441751;179441750 |
| Novex-1 | 14164 | 42715;42716;42717 | chr2:178577025;178577024;178577023 | chr2:179441752;179441751;179441750 |
| Novex-2 | 14231 | 42916;42917;42918 | chr2:178577025;178577024;178577023 | chr2:179441752;179441751;179441750 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs746045754  |
-2.16 | 1.0 | D | 0.865 | 0.709 | 0.856632246628 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| L/F | rs746045754 |
-2.16 | 1.0 | D | 0.865 | 0.709 | 0.856632246628 | gnomAD-4.0.0 | 1.59189E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88352E-05 | 0 | 0 | 0 | 0 |
| L/R | None | None | 1.0 | D | 0.842 | 0.939 | 0.915694398774 | gnomAD-4.0.0 | 1.36864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.31411E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9828 | likely_pathogenic | 0.9844 | pathogenic | -2.684 | Highly Destabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| L/C | 0.9622 | likely_pathogenic | 0.9651 | pathogenic | -1.922 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| L/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.8 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| L/E | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -2.634 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/F | 0.8908 | likely_pathogenic | 0.8936 | pathogenic | -1.713 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.670780358 | None | None | N |
| L/G | 0.9923 | likely_pathogenic | 0.9941 | pathogenic | -3.191 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| L/H | 0.995 | likely_pathogenic | 0.9969 | pathogenic | -2.459 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.687839101 | None | None | N |
| L/I | 0.6092 | likely_pathogenic | 0.6054 | pathogenic | -1.244 | Destabilizing | 0.999 | D | 0.845 | deleterious | D | 0.648644353 | None | None | N |
| L/K | 0.9962 | likely_pathogenic | 0.9977 | pathogenic | -2.118 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| L/M | 0.5809 | likely_pathogenic | 0.5454 | ambiguous | -1.044 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| L/N | 0.9947 | likely_pathogenic | 0.9968 | pathogenic | -2.283 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| L/P | 0.9973 | likely_pathogenic | 0.9982 | pathogenic | -1.702 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.687839101 | None | None | N |
| L/Q | 0.9928 | likely_pathogenic | 0.995 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| L/R | 0.9922 | likely_pathogenic | 0.9949 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.662300989 | None | None | N |
| L/S | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -2.996 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| L/T | 0.9899 | likely_pathogenic | 0.9918 | pathogenic | -2.691 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| L/V | 0.6826 | likely_pathogenic | 0.6686 | pathogenic | -1.702 | Destabilizing | 0.999 | D | 0.856 | deleterious | D | 0.606965439 | None | None | N |
| L/W | 0.9869 | likely_pathogenic | 0.9904 | pathogenic | -2.016 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| L/Y | 0.987 | likely_pathogenic | 0.9897 | pathogenic | -1.784 | Destabilizing | 1.0 | D | 0.818 | 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.