Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31630 | 95113;95114;95115 | chr2:178546443;178546442;178546441 | chr2:179411170;179411169;179411168 |
| N2AB | 29989 | 90190;90191;90192 | chr2:178546443;178546442;178546441 | chr2:179411170;179411169;179411168 |
| N2A | 29062 | 87409;87410;87411 | chr2:178546443;178546442;178546441 | chr2:179411170;179411169;179411168 |
| N2B | 22565 | 67918;67919;67920 | chr2:178546443;178546442;178546441 | chr2:179411170;179411169;179411168 |
| Novex-1 | 22690 | 68293;68294;68295 | chr2:178546443;178546442;178546441 | chr2:179411170;179411169;179411168 |
| Novex-2 | 22757 | 68494;68495;68496 | chr2:178546443;178546442;178546441 | chr2:179411170;179411169;179411168 |
| 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 | rs576480657  |
-0.661 | 1.0 | D | 0.88 | 0.76 | 0.727109542286 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs576480657 |
-0.661 | 1.0 | D | 0.88 | 0.76 | 0.727109542286 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs576480657 |
-0.661 | 1.0 | D | 0.88 | 0.76 | 0.727109542286 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/D | rs576480657 |
-0.661 | 1.0 | D | 0.88 | 0.76 | 0.727109542286 | gnomAD-4.0.0 | 6.56754E-06 | None | None | None | None | I | None | 2.40662E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1697172805 |
None | 1.0 | D | 0.882 | 0.824 | 0.911856448755 | gnomAD-4.0.0 | 1.59151E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77577E-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 | 0.7472 | likely_pathogenic | 0.7388 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.603859807 | None | None | I |
| G/C | 0.8608 | likely_pathogenic | 0.8392 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.645790528 | None | None | I |
| G/D | 0.8696 | likely_pathogenic | 0.827 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.588083329 | None | None | I |
| G/E | 0.9123 | likely_pathogenic | 0.8944 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/F | 0.9803 | likely_pathogenic | 0.9773 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/H | 0.945 | likely_pathogenic | 0.9222 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/I | 0.9859 | likely_pathogenic | 0.9853 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/K | 0.9476 | likely_pathogenic | 0.9268 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/L | 0.967 | likely_pathogenic | 0.9643 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/M | 0.9763 | likely_pathogenic | 0.9738 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/N | 0.8285 | likely_pathogenic | 0.788 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/P | 0.9975 | likely_pathogenic | 0.9969 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/Q | 0.8956 | likely_pathogenic | 0.8695 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/R | 0.8941 | likely_pathogenic | 0.8553 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.645386919 | None | None | I |
| G/S | 0.5452 | ambiguous | 0.5104 | ambiguous | -0.687 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.612944589 | None | None | I |
| G/T | 0.8957 | likely_pathogenic | 0.8863 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.965 | likely_pathogenic | 0.9624 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.645588724 | None | None | I |
| G/W | 0.9635 | likely_pathogenic | 0.9536 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/Y | 0.9646 | likely_pathogenic | 0.9539 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.856 | 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.