Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16375 | 49348;49349;49350 | chr2:178614274;178614273;178614272 | chr2:179479001;179479000;179478999 |
| N2AB | 14734 | 44425;44426;44427 | chr2:178614274;178614273;178614272 | chr2:179479001;179479000;179478999 |
| N2A | 13807 | 41644;41645;41646 | chr2:178614274;178614273;178614272 | chr2:179479001;179479000;179478999 |
| N2B | 7310 | 22153;22154;22155 | chr2:178614274;178614273;178614272 | chr2:179479001;179479000;179478999 |
| Novex-1 | 7435 | 22528;22529;22530 | chr2:178614274;178614273;178614272 | chr2:179479001;179479000;179478999 |
| Novex-2 | 7502 | 22729;22730;22731 | chr2:178614274;178614273;178614272 | chr2:179479001;179479000;179478999 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.885 | 0.6 | 0.841995927497 | gnomAD-4.0.0 | 2.73838E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59917E-06 | 0 | 0 |
| P/Q | rs1256813746  |
None | 1.0 | D | 0.812 | 0.627 | 0.73734657789 | gnomAD-4.0.0 | 2.05378E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69938E-06 | 0 | 0 |
| P/R | rs1256813746 |
-1.25 | 1.0 | D | 0.87 | 0.617 | 0.742486130394 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs1256813746 |
-1.25 | 1.0 | D | 0.87 | 0.617 | 0.742486130394 | gnomAD-4.0.0 | 6.84594E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53075E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1424436024 |
-2.254 | 1.0 | D | 0.833 | 0.525 | 0.482209950775 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9559 | likely_pathogenic | 0.9313 | pathogenic | -1.902 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.680804834 | None | None | N |
| P/C | 0.9964 | likely_pathogenic | 0.9935 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.161 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/E | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -2.098 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/F | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/G | 0.9967 | likely_pathogenic | 0.9955 | pathogenic | -2.303 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/H | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -2.02 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/I | 0.9983 | likely_pathogenic | 0.9971 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/K | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/L | 0.991 | likely_pathogenic | 0.987 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.768618542 | None | None | N |
| P/M | 0.999 | likely_pathogenic | 0.9983 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/N | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/Q | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -1.628 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.772683944 | None | None | N |
| P/R | 0.9982 | likely_pathogenic | 0.9975 | pathogenic | -1.224 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.708351002 | None | None | N |
| P/S | 0.9939 | likely_pathogenic | 0.9903 | pathogenic | -2.051 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.623284707 | None | None | N |
| P/T | 0.9946 | likely_pathogenic | 0.991 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.724729413 | None | None | N |
| P/V | 0.9931 | likely_pathogenic | 0.9887 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.738 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/Y | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.869 | 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.