Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30443 | 91552;91553;91554 | chr2:178551204;178551203;178551202 | chr2:179415931;179415930;179415929 |
| N2AB | 28802 | 86629;86630;86631 | chr2:178551204;178551203;178551202 | chr2:179415931;179415930;179415929 |
| N2A | 27875 | 83848;83849;83850 | chr2:178551204;178551203;178551202 | chr2:179415931;179415930;179415929 |
| N2B | 21378 | 64357;64358;64359 | chr2:178551204;178551203;178551202 | chr2:179415931;179415930;179415929 |
| Novex-1 | 21503 | 64732;64733;64734 | chr2:178551204;178551203;178551202 | chr2:179415931;179415930;179415929 |
| Novex-2 | 21570 | 64933;64934;64935 | chr2:178551204;178551203;178551202 | chr2:179415931;179415930;179415929 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs1396920730  |
-2.362 | 1.0 | D | 0.919 | 0.925 | 0.868951155756 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/R | rs1396920730 |
-2.362 | 1.0 | D | 0.919 | 0.925 | 0.868951155756 | gnomAD-4.0.0 | 3.18375E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86599E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -3.713 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -2.235 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.672525157 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -4.045 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.938 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| W/F | 0.9178 | likely_pathogenic | 0.9172 | pathogenic | -2.42 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/G | 0.989 | likely_pathogenic | 0.9898 | pathogenic | -3.938 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.672525157 | None | None | N |
| W/H | 0.999 | likely_pathogenic | 0.999 | pathogenic | -2.877 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/I | 0.998 | likely_pathogenic | 0.9984 | pathogenic | -2.816 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.01 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/L | 0.9949 | likely_pathogenic | 0.9958 | pathogenic | -2.816 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.671516136 | None | None | N |
| W/M | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -2.252 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.696 | Highly Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.149 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.573 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.605 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.672525157 | None | None | N |
| W/S | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -3.829 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.656505796 | None | None | N |
| W/T | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -3.65 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| W/V | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -3.149 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/Y | 0.9768 | likely_pathogenic | 0.9774 | pathogenic | -2.331 | Highly Destabilizing | 1.0 | D | 0.864 | 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.