Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24556 | 73891;73892;73893 | chr2:178572466;178572465;178572464 | chr2:179437193;179437192;179437191 |
| N2AB | 22915 | 68968;68969;68970 | chr2:178572466;178572465;178572464 | chr2:179437193;179437192;179437191 |
| N2A | 21988 | 66187;66188;66189 | chr2:178572466;178572465;178572464 | chr2:179437193;179437192;179437191 |
| N2B | 15491 | 46696;46697;46698 | chr2:178572466;178572465;178572464 | chr2:179437193;179437192;179437191 |
| Novex-1 | 15616 | 47071;47072;47073 | chr2:178572466;178572465;178572464 | chr2:179437193;179437192;179437191 |
| Novex-2 | 15683 | 47272;47273;47274 | chr2:178572466;178572465;178572464 | chr2:179437193;179437192;179437191 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs532581749  |
-1.762 | 0.998 | D | 0.84 | 0.562 | 0.809456748508 | 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 |
| V/F | rs532581749 |
-1.762 | 0.998 | D | 0.84 | 0.562 | 0.809456748508 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| V/F | rs532581749 |
-1.762 | 0.998 | D | 0.84 | 0.562 | 0.809456748508 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/F | rs532581749 |
-1.762 | 0.998 | D | 0.84 | 0.562 | 0.809456748508 | gnomAD-4.0.0 | 6.57125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07641E-04 | 0 |
| V/L | None | None | 0.511 | D | 0.589 | 0.197 | 0.511907979761 | gnomAD-4.0.0 | 1.36941E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80002E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9123 | likely_pathogenic | 0.8749 | pathogenic | -2.45 | Highly Destabilizing | 0.99 | D | 0.641 | neutral | D | 0.551352308 | None | None | N |
| V/C | 0.9823 | likely_pathogenic | 0.9772 | pathogenic | -1.779 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| V/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.377 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.563469082 | None | None | N |
| V/E | 0.9979 | likely_pathogenic | 0.9975 | pathogenic | -3.045 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| V/F | 0.9351 | likely_pathogenic | 0.9072 | pathogenic | -1.34 | Destabilizing | 0.998 | D | 0.84 | deleterious | D | 0.551859287 | None | None | N |
| V/G | 0.9827 | likely_pathogenic | 0.9771 | pathogenic | -3.06 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.563469082 | None | None | N |
| V/H | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -2.965 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/I | 0.0772 | likely_benign | 0.0764 | benign | -0.658 | Destabilizing | 0.106 | N | 0.311 | neutral | N | 0.447258996 | None | None | N |
| V/K | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/L | 0.577 | likely_pathogenic | 0.5015 | ambiguous | -0.658 | Destabilizing | 0.511 | D | 0.589 | neutral | D | 0.523877127 | None | None | N |
| V/M | 0.7972 | likely_pathogenic | 0.7191 | pathogenic | -0.971 | Destabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | N |
| V/N | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -2.666 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| V/P | 0.9932 | likely_pathogenic | 0.9927 | pathogenic | -1.24 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| V/Q | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | -2.265 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/R | 0.9953 | likely_pathogenic | 0.9946 | pathogenic | -2.098 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| V/S | 0.9886 | likely_pathogenic | 0.9844 | pathogenic | -3.132 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/T | 0.9234 | likely_pathogenic | 0.8979 | pathogenic | -2.642 | Highly Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/W | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| V/Y | 0.9969 | likely_pathogenic | 0.9955 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.841 | deleterious | 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.