Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16928 | 51007;51008;51009 | chr2:178611447;178611446;178611445 | chr2:179476174;179476173;179476172 |
| N2AB | 15287 | 46084;46085;46086 | chr2:178611447;178611446;178611445 | chr2:179476174;179476173;179476172 |
| N2A | 14360 | 43303;43304;43305 | chr2:178611447;178611446;178611445 | chr2:179476174;179476173;179476172 |
| N2B | 7863 | 23812;23813;23814 | chr2:178611447;178611446;178611445 | chr2:179476174;179476173;179476172 |
| Novex-1 | 7988 | 24187;24188;24189 | chr2:178611447;178611446;178611445 | chr2:179476174;179476173;179476172 |
| Novex-2 | 8055 | 24388;24389;24390 | chr2:178611447;178611446;178611445 | chr2:179476174;179476173;179476172 |
| 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 | rs772461854  |
-2.735 | 0.999 | D | 0.639 | 0.769 | 0.803072696312 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 1.68577E-04 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs772461854 |
-2.735 | 0.999 | D | 0.639 | 0.769 | 0.803072696312 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.90016E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs772461854 |
-2.735 | 0.999 | D | 0.639 | 0.769 | 0.803072696312 | gnomAD-4.0.0 | 4.96015E-06 | None | None | None | None | N | None | 0 | 1.66811E-05 | None | 0 | 1.56754E-04 | None | 0 | 0 | 0 | 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 | 0.8489 | likely_pathogenic | 0.9401 | pathogenic | -2.64 | Highly Destabilizing | 0.999 | D | 0.639 | neutral | D | 0.72331619 | None | None | N |
| V/C | 0.9595 | likely_pathogenic | 0.9823 | pathogenic | -2.124 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| V/D | 0.9989 | likely_pathogenic | 0.9995 | pathogenic | -3.555 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/E | 0.9959 | likely_pathogenic | 0.998 | pathogenic | -3.254 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.80748685 | None | None | N |
| V/F | 0.9633 | likely_pathogenic | 0.9757 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| V/G | 0.8964 | likely_pathogenic | 0.9589 | pathogenic | -3.206 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.80748685 | None | None | N |
| V/H | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -2.993 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/I | 0.1742 | likely_benign | 0.2179 | benign | -0.98 | Destabilizing | 0.998 | D | 0.618 | neutral | None | None | None | None | N |
| V/K | 0.9976 | likely_pathogenic | 0.9986 | pathogenic | -2.166 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/L | 0.8313 | likely_pathogenic | 0.9126 | pathogenic | -0.98 | Destabilizing | 0.997 | D | 0.651 | neutral | D | 0.66869702 | None | None | N |
| V/M | 0.9091 | likely_pathogenic | 0.9508 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.723906816 | None | None | N |
| V/N | 0.9953 | likely_pathogenic | 0.998 | pathogenic | -2.798 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/P | 0.996 | likely_pathogenic | 0.9976 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/Q | 0.9952 | likely_pathogenic | 0.9979 | pathogenic | -2.468 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/R | 0.9936 | likely_pathogenic | 0.9966 | pathogenic | -2.147 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| V/S | 0.9627 | likely_pathogenic | 0.987 | pathogenic | -3.286 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| V/T | 0.9273 | likely_pathogenic | 0.9677 | pathogenic | -2.844 | Highly Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/W | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -2.002 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| V/Y | 0.9968 | likely_pathogenic | 0.9981 | pathogenic | -1.767 | Destabilizing | 1.0 | D | 0.828 | 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.