Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16348 | 49267;49268;49269 | chr2:178614472;178614471;178614470 | chr2:179479199;179479198;179479197 |
| N2AB | 14707 | 44344;44345;44346 | chr2:178614472;178614471;178614470 | chr2:179479199;179479198;179479197 |
| N2A | 13780 | 41563;41564;41565 | chr2:178614472;178614471;178614470 | chr2:179479199;179479198;179479197 |
| N2B | 7283 | 22072;22073;22074 | chr2:178614472;178614471;178614470 | chr2:179479199;179479198;179479197 |
| Novex-1 | 7408 | 22447;22448;22449 | chr2:178614472;178614471;178614470 | chr2:179479199;179479198;179479197 |
| Novex-2 | 7475 | 22648;22649;22650 | chr2:178614472;178614471;178614470 | chr2:179479199;179479198;179479197 |
| 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/I | rs562289342  |
-0.186 | 0.438 | D | 0.368 | 0.299 | 0.600506446584 | gnomAD-2.1.1 | 2.08E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.14168E-04 | None | 3.55E-05 | None | 0 | 1.82E-05 | 0 |
| V/I | rs562289342 |
-0.186 | 0.438 | D | 0.368 | 0.299 | 0.600506446584 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| V/I | rs562289342 |
-0.186 | 0.438 | D | 0.368 | 0.299 | 0.600506446584 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/I | rs562289342 |
-0.186 | 0.438 | D | 0.368 | 0.299 | 0.600506446584 | gnomAD-4.0.0 | 6.24557E-06 | None | None | None | None | N | None | 1.34626E-05 | 0 | None | 0 | 6.74521E-05 | None | 0 | 0 | 3.40683E-06 | 2.25938E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9853 | likely_pathogenic | 0.9774 | pathogenic | -1.67 | Destabilizing | 0.91 | D | 0.505 | neutral | D | 0.712775231 | None | None | N |
| V/C | 0.9912 | likely_pathogenic | 0.9881 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | N |
| V/D | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -2.737 | Highly Destabilizing | 0.998 | D | 0.636 | neutral | D | 0.770193874 | None | None | N |
| V/E | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -2.695 | Highly Destabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | N |
| V/F | 0.9832 | likely_pathogenic | 0.9719 | pathogenic | -1.331 | Destabilizing | 0.998 | D | 0.578 | neutral | D | 0.770923779 | None | None | N |
| V/G | 0.9916 | likely_pathogenic | 0.9876 | pathogenic | -1.98 | Destabilizing | 0.998 | D | 0.613 | neutral | D | 0.770193874 | None | None | N |
| V/H | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| V/I | 0.1208 | likely_benign | 0.1072 | benign | -0.882 | Destabilizing | 0.438 | N | 0.368 | neutral | D | 0.529714306 | None | None | N |
| V/K | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -1.414 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| V/L | 0.9454 | likely_pathogenic | 0.9195 | pathogenic | -0.882 | Destabilizing | 0.849 | D | 0.533 | neutral | D | 0.715362037 | None | None | N |
| V/M | 0.9535 | likely_pathogenic | 0.9216 | pathogenic | -1.041 | Destabilizing | 0.996 | D | 0.574 | neutral | None | None | None | None | N |
| V/N | 0.9967 | likely_pathogenic | 0.9951 | pathogenic | -1.56 | Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| V/P | 0.9977 | likely_pathogenic | 0.9974 | pathogenic | -1.116 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| V/Q | 0.9986 | likely_pathogenic | 0.998 | pathogenic | -1.77 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| V/R | 0.9977 | likely_pathogenic | 0.9969 | pathogenic | -0.91 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| V/S | 0.9922 | likely_pathogenic | 0.9887 | pathogenic | -1.992 | Destabilizing | 0.999 | D | 0.54 | neutral | None | None | None | None | N |
| V/T | 0.9619 | likely_pathogenic | 0.9471 | pathogenic | -1.848 | Destabilizing | 0.985 | D | 0.547 | neutral | None | None | None | None | N |
| V/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| V/Y | 0.9986 | likely_pathogenic | 0.9978 | pathogenic | -1.22 | Destabilizing | 0.999 | D | 0.591 | 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.