Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25693 | 77302;77303;77304 | chr2:178569055;178569054;178569053 | chr2:179433782;179433781;179433780 |
| N2AB | 24052 | 72379;72380;72381 | chr2:178569055;178569054;178569053 | chr2:179433782;179433781;179433780 |
| N2A | 23125 | 69598;69599;69600 | chr2:178569055;178569054;178569053 | chr2:179433782;179433781;179433780 |
| N2B | 16628 | 50107;50108;50109 | chr2:178569055;178569054;178569053 | chr2:179433782;179433781;179433780 |
| Novex-1 | 16753 | 50482;50483;50484 | chr2:178569055;178569054;178569053 | chr2:179433782;179433781;179433780 |
| Novex-2 | 16820 | 50683;50684;50685 | chr2:178569055;178569054;178569053 | chr2:179433782;179433781;179433780 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | None | None | 0.57 | N | 0.726 | 0.441 | 0.776213509132 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/T | None | None | 0.03 | N | 0.526 | 0.302 | 0.473300991676 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| I/V | rs765718348  |
-0.946 | None | N | 0.113 | 0.144 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/V | rs765718348 |
-0.946 | None | N | 0.113 | 0.144 | None | gnomAD-4.0.0 | 3.42205E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59855E-06 | 1.1602E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3261 | likely_benign | 0.4192 | ambiguous | -2.097 | Highly Destabilizing | 0.016 | N | 0.443 | neutral | None | None | None | None | N |
| I/C | 0.566 | likely_pathogenic | 0.614 | pathogenic | -1.278 | Destabilizing | 0.685 | D | 0.499 | neutral | None | None | None | None | N |
| I/D | 0.8459 | likely_pathogenic | 0.8933 | pathogenic | -2.14 | Highly Destabilizing | 0.366 | N | 0.715 | prob.delet. | None | None | None | None | N |
| I/E | 0.6425 | likely_pathogenic | 0.7165 | pathogenic | -1.902 | Destabilizing | 0.366 | N | 0.687 | prob.delet. | None | None | None | None | N |
| I/F | 0.1938 | likely_benign | 0.2232 | benign | -1.22 | Destabilizing | 0.177 | N | 0.427 | neutral | N | 0.49692487 | None | None | N |
| I/G | 0.6815 | likely_pathogenic | 0.7745 | pathogenic | -2.622 | Highly Destabilizing | 0.366 | N | 0.676 | prob.neutral | None | None | None | None | N |
| I/H | 0.5951 | likely_pathogenic | 0.6647 | pathogenic | -1.937 | Destabilizing | 0.869 | D | 0.719 | prob.delet. | None | None | None | None | N |
| I/K | 0.4931 | ambiguous | 0.5587 | ambiguous | -1.526 | Destabilizing | 0.366 | N | 0.685 | prob.delet. | None | None | None | None | N |
| I/L | 0.102 | likely_benign | 0.1117 | benign | -0.587 | Destabilizing | None | N | 0.133 | neutral | N | 0.484902159 | None | None | N |
| I/M | 0.104 | likely_benign | 0.1147 | benign | -0.51 | Destabilizing | 0.177 | N | 0.461 | neutral | N | 0.49717836 | None | None | N |
| I/N | 0.4423 | ambiguous | 0.5307 | ambiguous | -1.936 | Destabilizing | 0.57 | D | 0.726 | deleterious | N | 0.49717836 | None | None | N |
| I/P | 0.9406 | likely_pathogenic | 0.9501 | pathogenic | -1.071 | Destabilizing | 0.637 | D | 0.719 | prob.delet. | None | None | None | None | N |
| I/Q | 0.4549 | ambiguous | 0.5319 | ambiguous | -1.748 | Destabilizing | 0.637 | D | 0.715 | prob.delet. | None | None | None | None | N |
| I/R | 0.4381 | ambiguous | 0.5017 | ambiguous | -1.372 | Destabilizing | 0.366 | N | 0.723 | deleterious | None | None | None | None | N |
| I/S | 0.3722 | ambiguous | 0.4707 | ambiguous | -2.625 | Highly Destabilizing | 0.058 | N | 0.579 | neutral | N | 0.495910912 | None | None | N |
| I/T | 0.228 | likely_benign | 0.2819 | benign | -2.228 | Highly Destabilizing | 0.03 | N | 0.526 | neutral | N | 0.474257804 | None | None | N |
| I/V | 0.0516 | likely_benign | 0.0528 | benign | -1.071 | Destabilizing | None | N | 0.113 | neutral | N | 0.407404168 | None | None | N |
| I/W | 0.8438 | likely_pathogenic | 0.8652 | pathogenic | -1.532 | Destabilizing | 0.869 | D | 0.741 | deleterious | None | None | None | None | N |
| I/Y | 0.5865 | likely_pathogenic | 0.6345 | pathogenic | -1.197 | Destabilizing | 0.366 | N | 0.513 | neutral | 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.