Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15685 | 47278;47279;47280 | chr2:178618405;178618404;178618403 | chr2:179483132;179483131;179483130 |
| N2AB | 14044 | 42355;42356;42357 | chr2:178618405;178618404;178618403 | chr2:179483132;179483131;179483130 |
| N2A | 13117 | 39574;39575;39576 | chr2:178618405;178618404;178618403 | chr2:179483132;179483131;179483130 |
| N2B | 6620 | 20083;20084;20085 | chr2:178618405;178618404;178618403 | chr2:179483132;179483131;179483130 |
| Novex-1 | 6745 | 20458;20459;20460 | chr2:178618405;178618404;178618403 | chr2:179483132;179483131;179483130 |
| Novex-2 | 6812 | 20659;20660;20661 | chr2:178618405;178618404;178618403 | chr2:179483132;179483131;179483130 |
| 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/D | rs1318116963  |
-0.635 | 1.0 | D | 0.831 | 0.54 | 0.400756358115 | gnomAD-2.1.1 | 3.1904E-04 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48508E-04 | 0 |
| G/D | rs1318116963 |
-0.635 | 1.0 | D | 0.831 | 0.54 | 0.400756358115 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| G/D | rs1318116963 |
-0.635 | 1.0 | D | 0.831 | 0.54 | 0.400756358115 | gnomAD-4.0.0 | 5.58191E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63279E-06 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.836 | 0.488 | 0.60416271137 | gnomAD-4.0.0 | 6.84713E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99899E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9203 | likely_pathogenic | 0.8829 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.728549531 | None | None | I |
| G/C | 0.9725 | likely_pathogenic | 0.9681 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.763938917 | None | None | I |
| G/D | 0.9905 | likely_pathogenic | 0.988 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.666291562 | None | None | I |
| G/E | 0.9947 | likely_pathogenic | 0.9919 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/F | 0.9969 | likely_pathogenic | 0.9961 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/H | 0.9967 | likely_pathogenic | 0.9963 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/I | 0.9968 | likely_pathogenic | 0.9948 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/K | 0.9971 | likely_pathogenic | 0.996 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/L | 0.9956 | likely_pathogenic | 0.9949 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/M | 0.9978 | likely_pathogenic | 0.9972 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/N | 0.9895 | likely_pathogenic | 0.9889 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/Q | 0.9948 | likely_pathogenic | 0.9942 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/R | 0.9877 | likely_pathogenic | 0.9849 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.621526487 | None | None | I |
| G/S | 0.903 | likely_pathogenic | 0.9024 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.650729169 | None | None | I |
| G/T | 0.9881 | likely_pathogenic | 0.9836 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/V | 0.9935 | likely_pathogenic | 0.9898 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.681117887 | None | None | I |
| G/W | 0.9941 | likely_pathogenic | 0.9926 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Y | 0.9957 | likely_pathogenic | 0.9948 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.805 | deleterious | 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.