Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23509 | 70750;70751;70752 | chr2:178575607;178575606;178575605 | chr2:179440334;179440333;179440332 |
| N2AB | 21868 | 65827;65828;65829 | chr2:178575607;178575606;178575605 | chr2:179440334;179440333;179440332 |
| N2A | 20941 | 63046;63047;63048 | chr2:178575607;178575606;178575605 | chr2:179440334;179440333;179440332 |
| N2B | 14444 | 43555;43556;43557 | chr2:178575607;178575606;178575605 | chr2:179440334;179440333;179440332 |
| Novex-1 | 14569 | 43930;43931;43932 | chr2:178575607;178575606;178575605 | chr2:179440334;179440333;179440332 |
| Novex-2 | 14636 | 44131;44132;44133 | chr2:178575607;178575606;178575605 | chr2:179440334;179440333;179440332 |
| 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/E | rs926271333  |
None | 1.0 | D | 0.875 | 0.873 | 0.905623151949 | gnomAD-4.0.0 | 6.8427E-07 | None | None | None | None | N | None | 2.98846E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs926271333 |
None | 1.0 | D | 0.891 | 0.864 | 0.921624639312 | gnomAD-4.0.0 | 6.8427E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99548E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9243 | likely_pathogenic | 0.9385 | pathogenic | -2.496 | Highly Destabilizing | 0.999 | D | 0.595 | neutral | D | 0.574369131 | None | None | N |
| V/C | 0.9771 | likely_pathogenic | 0.9806 | pathogenic | -2.064 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| V/D | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -3.624 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/E | 0.9973 | likely_pathogenic | 0.9978 | pathogenic | -3.327 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.655021777 | None | None | N |
| V/F | 0.9705 | likely_pathogenic | 0.9759 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| V/G | 0.9657 | likely_pathogenic | 0.9722 | pathogenic | -3.08 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.655021777 | None | None | N |
| V/H | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.917 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| V/I | 0.1188 | likely_benign | 0.1333 | benign | -0.797 | Destabilizing | 0.722 | D | 0.265 | neutral | None | None | None | None | N |
| V/K | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -2.214 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/L | 0.8091 | likely_pathogenic | 0.8442 | pathogenic | -0.797 | Destabilizing | 0.922 | D | 0.494 | neutral | D | 0.530813106 | None | None | N |
| V/M | 0.9054 | likely_pathogenic | 0.9241 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.567874671 | None | None | N |
| V/N | 0.9967 | likely_pathogenic | 0.9974 | pathogenic | -2.824 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| V/P | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/Q | 0.9974 | likely_pathogenic | 0.9977 | pathogenic | -2.533 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| V/R | 0.9962 | likely_pathogenic | 0.9964 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| V/S | 0.986 | likely_pathogenic | 0.9899 | pathogenic | -3.341 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| V/T | 0.9571 | likely_pathogenic | 0.9665 | pathogenic | -2.897 | Highly Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| V/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.049 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/Y | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -1.725 | 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.