Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29173 | 87742;87743;87744 | chr2:178557837;178557836;178557835 | chr2:179422564;179422563;179422562 |
| N2AB | 27532 | 82819;82820;82821 | chr2:178557837;178557836;178557835 | chr2:179422564;179422563;179422562 |
| N2A | 26605 | 80038;80039;80040 | chr2:178557837;178557836;178557835 | chr2:179422564;179422563;179422562 |
| N2B | 20108 | 60547;60548;60549 | chr2:178557837;178557836;178557835 | chr2:179422564;179422563;179422562 |
| Novex-1 | 20233 | 60922;60923;60924 | chr2:178557837;178557836;178557835 | chr2:179422564;179422563;179422562 |
| Novex-2 | 20300 | 61123;61124;61125 | chr2:178557837;178557836;178557835 | chr2:179422564;179422563;179422562 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs773203499  |
-2.148 | 1.0 | D | 0.877 | 0.887 | 0.890029031301 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/C | rs773203499 |
-2.148 | 1.0 | D | 0.877 | 0.887 | 0.890029031301 | gnomAD-4.0.0 | 1.59104E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| Y/D | None | None | 1.0 | D | 0.909 | 0.89 | 0.847993848393 | gnomAD-4.0.0 | 6.84169E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99433E-07 | 0 | 0 |
| Y/H | None | None | 1.0 | D | 0.818 | 0.884 | 0.78497012721 | gnomAD-4.0.0 | 6.84169E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99433E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9958 | likely_pathogenic | 0.9969 | pathogenic | -3.796 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| Y/C | 0.9081 | likely_pathogenic | 0.9254 | pathogenic | -2.503 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.657673799 | None | None | N |
| Y/D | 0.9953 | likely_pathogenic | 0.9963 | pathogenic | -4.045 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.658077407 | None | None | N |
| Y/E | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -3.848 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/F | 0.3605 | ambiguous | 0.3119 | benign | -1.435 | Destabilizing | 0.999 | D | 0.64 | neutral | D | 0.552938975 | None | None | N |
| Y/G | 0.9868 | likely_pathogenic | 0.9908 | pathogenic | -4.196 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| Y/H | 0.9714 | likely_pathogenic | 0.9738 | pathogenic | -2.652 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.641654438 | None | None | N |
| Y/I | 0.9738 | likely_pathogenic | 0.9788 | pathogenic | -2.439 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| Y/K | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -2.703 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| Y/L | 0.945 | likely_pathogenic | 0.958 | pathogenic | -2.439 | Highly Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| Y/M | 0.9858 | likely_pathogenic | 0.9884 | pathogenic | -2.273 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| Y/N | 0.9699 | likely_pathogenic | 0.9753 | pathogenic | -3.441 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.658077407 | None | None | N |
| Y/P | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.936 | deleterious | None | None | None | None | N |
| Y/Q | 0.9979 | likely_pathogenic | 0.9985 | pathogenic | -3.229 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/R | 0.9933 | likely_pathogenic | 0.9948 | pathogenic | -2.286 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| Y/S | 0.9813 | likely_pathogenic | 0.9848 | pathogenic | -3.805 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.658077407 | None | None | N |
| Y/T | 0.9925 | likely_pathogenic | 0.9944 | pathogenic | -3.494 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/V | 0.9525 | likely_pathogenic | 0.9616 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| Y/W | 0.9111 | likely_pathogenic | 0.9073 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.799 | 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.