Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25727 | 77404;77405;77406 | chr2:178568953;178568952;178568951 | chr2:179433680;179433679;179433678 |
| N2AB | 24086 | 72481;72482;72483 | chr2:178568953;178568952;178568951 | chr2:179433680;179433679;179433678 |
| N2A | 23159 | 69700;69701;69702 | chr2:178568953;178568952;178568951 | chr2:179433680;179433679;179433678 |
| N2B | 16662 | 50209;50210;50211 | chr2:178568953;178568952;178568951 | chr2:179433680;179433679;179433678 |
| Novex-1 | 16787 | 50584;50585;50586 | chr2:178568953;178568952;178568951 | chr2:179433680;179433679;179433678 |
| Novex-2 | 16854 | 50785;50786;50787 | chr2:178568953;178568952;178568951 | chr2:179433680;179433679;179433678 |
| 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/S | rs747233995  |
-0.209 | 1.0 | N | 0.693 | 0.507 | 0.380901646489 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs747233995 |
-0.209 | 1.0 | N | 0.693 | 0.507 | 0.380901646489 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77331E-05 | None | 0 | 0 | 0 | 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 | 0.8927 | likely_pathogenic | 0.8685 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.497868328 | None | None | I |
| G/C | 0.9579 | likely_pathogenic | 0.9591 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.547283249 | None | None | I |
| G/D | 0.9871 | likely_pathogenic | 0.9806 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.52355668 | None | None | I |
| G/E | 0.9921 | likely_pathogenic | 0.9874 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/F | 0.9917 | likely_pathogenic | 0.9891 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/H | 0.9935 | likely_pathogenic | 0.9897 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/I | 0.9904 | likely_pathogenic | 0.9862 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/K | 0.9928 | likely_pathogenic | 0.9888 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/L | 0.9891 | likely_pathogenic | 0.9861 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/M | 0.9937 | likely_pathogenic | 0.9917 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/N | 0.978 | likely_pathogenic | 0.968 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.998 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/Q | 0.9891 | likely_pathogenic | 0.9834 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/R | 0.9788 | likely_pathogenic | 0.9702 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.526203253 | None | None | I |
| G/S | 0.86 | likely_pathogenic | 0.8013 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.503628773 | None | None | I |
| G/T | 0.9779 | likely_pathogenic | 0.9645 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/V | 0.9837 | likely_pathogenic | 0.9781 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.558804139 | None | None | I |
| G/W | 0.9904 | likely_pathogenic | 0.9884 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/Y | 0.9898 | likely_pathogenic | 0.9868 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.771 | 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.