Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5061 | 15406;15407;15408 | chr2:178734743;178734742;178734741 | chr2:179599470;179599469;179599468 |
| N2AB | 4744 | 14455;14456;14457 | chr2:178734743;178734742;178734741 | chr2:179599470;179599469;179599468 |
| N2A | 3817 | 11674;11675;11676 | chr2:178734743;178734742;178734741 | chr2:179599470;179599469;179599468 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/C | rs1441268700  |
None | 1.0 | D | 0.812 | 0.785 | 0.852862438607 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/C | rs1441268700 |
None | 1.0 | D | 0.812 | 0.785 | 0.852862438607 | gnomAD-4.0.0 | 1.85989E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54409E-06 | 0 | 0 |
| G/S | rs1441268700 |
-0.349 | 1.0 | D | 0.809 | 0.713 | 0.448891444097 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | I | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/S | rs1441268700 |
-0.349 | 1.0 | D | 0.809 | 0.713 | 0.448891444097 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs1441268700 |
-0.349 | 1.0 | D | 0.809 | 0.713 | 0.448891444097 | gnomAD-4.0.0 | 8.6795E-06 | None | None | None | None | I | None | 4.00513E-05 | 1.66733E-05 | None | 0 | 0 | None | 0 | 0 | 7.63227E-06 | 0 | 1.60159E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5152 | ambiguous | 0.6992 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.709989352 | None | None | I |
| G/C | 0.8206 | likely_pathogenic | 0.903 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.836715444 | None | None | I |
| G/D | 0.8344 | likely_pathogenic | 0.9246 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.709882349 | None | None | I |
| G/E | 0.8892 | likely_pathogenic | 0.9514 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/F | 0.961 | likely_pathogenic | 0.9777 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/H | 0.9528 | likely_pathogenic | 0.9806 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/I | 0.9417 | likely_pathogenic | 0.9709 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/K | 0.9611 | likely_pathogenic | 0.9806 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/L | 0.946 | likely_pathogenic | 0.9712 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/M | 0.9594 | likely_pathogenic | 0.9807 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/N | 0.9045 | likely_pathogenic | 0.9569 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/P | 0.9957 | likely_pathogenic | 0.9973 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/Q | 0.9116 | likely_pathogenic | 0.9588 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/R | 0.8983 | likely_pathogenic | 0.9454 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.783863946 | None | None | I |
| G/S | 0.428 | ambiguous | 0.6185 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.703384252 | None | None | I |
| G/T | 0.8035 | likely_pathogenic | 0.8957 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/V | 0.8839 | likely_pathogenic | 0.9401 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.803362199 | None | None | I |
| G/W | 0.9346 | likely_pathogenic | 0.969 | pathogenic | -1.224 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/Y | 0.9416 | likely_pathogenic | 0.9705 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.844 | 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.