Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1906 | 5941;5942;5943 | chr2:178776148;178776147;178776146 | chr2:179640875;179640874;179640873 |
| N2AB | 1906 | 5941;5942;5943 | chr2:178776148;178776147;178776146 | chr2:179640875;179640874;179640873 |
| N2A | 1906 | 5941;5942;5943 | chr2:178776148;178776147;178776146 | chr2:179640875;179640874;179640873 |
| N2B | 1860 | 5803;5804;5805 | chr2:178776148;178776147;178776146 | chr2:179640875;179640874;179640873 |
| Novex-1 | 1860 | 5803;5804;5805 | chr2:178776148;178776147;178776146 | chr2:179640875;179640874;179640873 |
| Novex-2 | 1860 | 5803;5804;5805 | chr2:178776148;178776147;178776146 | chr2:179640875;179640874;179640873 |
| Novex-3 | 1906 | 5941;5942;5943 | chr2:178776148;178776147;178776146 | chr2:179640875;179640874;179640873 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/V | rs1490334415  |
0.954 | 1.0 | D | 0.849 | 0.907 | 0.809660090653 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/V | rs1490334415 |
0.954 | 1.0 | D | 0.849 | 0.907 | 0.809660090653 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs1194783923 |
0.602 | 1.0 | D | 0.857 | 0.878 | 0.83116692961 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs1194783923 |
0.602 | 1.0 | D | 0.857 | 0.878 | 0.83116692961 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | 0.484 | Stabilizing | 1.0 | D | 0.845 | deleterious | D | 0.767981986 | None | None | N |
| D/C | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | 0.486 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/E | 0.9895 | likely_pathogenic | 0.9864 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.578 | neutral | D | 0.711959734 | None | None | N |
| D/F | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | 1.231 | Stabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| D/G | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | 0.002 | Stabilizing | 1.0 | D | 0.781 | deleterious | D | 0.767224383 | None | None | N |
| D/H | 0.998 | likely_pathogenic | 0.9976 | pathogenic | 0.891 | Stabilizing | 1.0 | D | 0.843 | deleterious | D | 0.67801749 | None | None | N |
| D/I | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | 1.785 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/K | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | 0.394 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/L | 0.9984 | likely_pathogenic | 0.998 | pathogenic | 1.785 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/M | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | 2.149 | Highly Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/N | 0.9923 | likely_pathogenic | 0.9896 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.69039233 | None | None | N |
| D/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | 1.382 | Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| D/Q | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/R | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | 0.39 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| D/S | 0.9974 | likely_pathogenic | 0.9965 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| D/T | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/V | 0.9987 | likely_pathogenic | 0.998 | pathogenic | 1.382 | Stabilizing | 1.0 | D | 0.849 | deleterious | D | 0.802042639 | None | None | N |
| D/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | 1.281 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/Y | 0.9974 | likely_pathogenic | 0.9963 | pathogenic | 1.529 | Stabilizing | 1.0 | D | 0.857 | deleterious | D | 0.682779105 | 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.