Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25638 | 77137;77138;77139 | chr2:178569220;178569219;178569218 | chr2:179433947;179433946;179433945 |
| N2AB | 23997 | 72214;72215;72216 | chr2:178569220;178569219;178569218 | chr2:179433947;179433946;179433945 |
| N2A | 23070 | 69433;69434;69435 | chr2:178569220;178569219;178569218 | chr2:179433947;179433946;179433945 |
| N2B | 16573 | 49942;49943;49944 | chr2:178569220;178569219;178569218 | chr2:179433947;179433946;179433945 |
| Novex-1 | 16698 | 50317;50318;50319 | chr2:178569220;178569219;178569218 | chr2:179433947;179433946;179433945 |
| Novex-2 | 16765 | 50518;50519;50520 | chr2:178569220;178569219;178569218 | chr2:179433947;179433946;179433945 |
| 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/A | rs771843047  |
-2.67 | 0.69 | D | 0.605 | 0.503 | 0.692605645839 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.04E-06 | 0 |
| V/A | rs771843047 |
-2.67 | 0.69 | D | 0.605 | 0.503 | 0.692605645839 | gnomAD-4.0.0 | 1.37563E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02706E-07 | 0 | 1.66722E-05 |
| V/I | None | None | 0.006 | N | 0.215 | 0.138 | 0.40417439687 | gnomAD-4.0.0 | 1.61223E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89343E-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 | 0.8452 | likely_pathogenic | 0.8603 | pathogenic | -2.319 | Highly Destabilizing | 0.69 | D | 0.605 | neutral | D | 0.564848207 | None | None | N |
| V/C | 0.9809 | likely_pathogenic | 0.9803 | pathogenic | -1.636 | Destabilizing | 0.999 | D | 0.78 | deleterious | None | None | None | None | N |
| V/D | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -3.251 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.565608676 | None | None | N |
| V/E | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -2.92 | Highly Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | N |
| V/F | 0.8996 | likely_pathogenic | 0.9081 | pathogenic | -1.232 | Destabilizing | 0.986 | D | 0.745 | deleterious | D | 0.565355186 | None | None | N |
| V/G | 0.9731 | likely_pathogenic | 0.9734 | pathogenic | -2.923 | Highly Destabilizing | 0.101 | N | 0.664 | neutral | D | 0.565608676 | None | None | N |
| V/H | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -2.856 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/I | 0.0692 | likely_benign | 0.0748 | benign | -0.538 | Destabilizing | 0.006 | N | 0.215 | neutral | N | 0.463959244 | None | None | N |
| V/K | 0.997 | likely_pathogenic | 0.9971 | pathogenic | -1.763 | Destabilizing | 0.999 | D | 0.804 | deleterious | None | None | None | None | N |
| V/L | 0.4784 | ambiguous | 0.4965 | ambiguous | -0.538 | Destabilizing | 0.257 | N | 0.447 | neutral | N | 0.52064482 | None | None | N |
| V/M | 0.6923 | likely_pathogenic | 0.7064 | pathogenic | -0.894 | Destabilizing | 0.985 | D | 0.643 | neutral | None | None | None | None | N |
| V/N | 0.9973 | likely_pathogenic | 0.9977 | pathogenic | -2.501 | Highly Destabilizing | 0.995 | D | 0.871 | deleterious | None | None | None | None | N |
| V/P | 0.9917 | likely_pathogenic | 0.993 | pathogenic | -1.117 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| V/Q | 0.9961 | likely_pathogenic | 0.9963 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/R | 0.9938 | likely_pathogenic | 0.9939 | pathogenic | -1.985 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| V/S | 0.9816 | likely_pathogenic | 0.9838 | pathogenic | -2.947 | Highly Destabilizing | 0.998 | D | 0.752 | deleterious | None | None | None | None | N |
| V/T | 0.8895 | likely_pathogenic | 0.8998 | pathogenic | -2.456 | Highly Destabilizing | 0.994 | D | 0.595 | neutral | None | None | None | None | N |
| V/W | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -1.762 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/Y | 0.995 | likely_pathogenic | 0.9951 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.753 | 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.