Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14045 | 42358;42359;42360 | chr2:178634741;178634740;178634739 | chr2:179499468;179499467;179499466 |
| N2AB | 12404 | 37435;37436;37437 | chr2:178634741;178634740;178634739 | chr2:179499468;179499467;179499466 |
| N2A | 11477 | 34654;34655;34656 | chr2:178634741;178634740;178634739 | chr2:179499468;179499467;179499466 |
| N2B | 4980 | 15163;15164;15165 | chr2:178634741;178634740;178634739 | chr2:179499468;179499467;179499466 |
| Novex-1 | 5105 | 15538;15539;15540 | chr2:178634741;178634740;178634739 | chr2:179499468;179499467;179499466 |
| Novex-2 | 5172 | 15739;15740;15741 | chr2:178634741;178634740;178634739 | chr2:179499468;179499467;179499466 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.262 | N | 0.299 | 0.224 | 0.284539287134 | gnomAD-4.0.0 | 6.84505E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99766E-07 | 0 | 0 |
| A/V | None | None | 0.999 | D | 0.626 | 0.347 | 0.479208069955 | gnomAD-4.0.0 | 1.36901E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79953E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9757 | likely_pathogenic | 0.9485 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| A/D | 0.998 | likely_pathogenic | 0.996 | pathogenic | -1.686 | Destabilizing | 0.999 | D | 0.891 | deleterious | D | 0.540804287 | None | None | N |
| A/E | 0.9983 | likely_pathogenic | 0.9966 | pathogenic | -1.637 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/F | 0.9988 | likely_pathogenic | 0.9972 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/G | 0.4019 | ambiguous | 0.2327 | benign | -1.368 | Destabilizing | 0.262 | N | 0.299 | neutral | N | 0.447273754 | None | None | N |
| A/H | 0.9987 | likely_pathogenic | 0.9976 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/I | 0.9992 | likely_pathogenic | 0.9976 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/K | 0.9991 | likely_pathogenic | 0.9979 | pathogenic | -1.322 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| A/L | 0.995 | likely_pathogenic | 0.9897 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/M | 0.997 | likely_pathogenic | 0.9931 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/N | 0.9954 | likely_pathogenic | 0.991 | pathogenic | -1.23 | Destabilizing | 0.999 | D | 0.886 | deleterious | None | None | None | None | N |
| A/P | 0.9993 | likely_pathogenic | 0.9983 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.540990803 | None | None | N |
| A/Q | 0.995 | likely_pathogenic | 0.9901 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/R | 0.9954 | likely_pathogenic | 0.9912 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/S | 0.5488 | ambiguous | 0.3969 | ambiguous | -1.614 | Destabilizing | 0.991 | D | 0.557 | neutral | N | 0.474171768 | None | None | N |
| A/T | 0.9559 | likely_pathogenic | 0.8983 | pathogenic | -1.459 | Destabilizing | 0.999 | D | 0.651 | prob.neutral | N | 0.457358802 | None | None | N |
| A/V | 0.9916 | likely_pathogenic | 0.9764 | pathogenic | -0.429 | Destabilizing | 0.999 | D | 0.626 | neutral | D | 0.532395187 | None | None | N |
| A/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.455 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/Y | 0.9994 | likely_pathogenic | 0.9986 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.875 | 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.