Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30429 | 91510;91511;91512 | chr2:178551246;178551245;178551244 | chr2:179415973;179415972;179415971 |
| N2AB | 28788 | 86587;86588;86589 | chr2:178551246;178551245;178551244 | chr2:179415973;179415972;179415971 |
| N2A | 27861 | 83806;83807;83808 | chr2:178551246;178551245;178551244 | chr2:179415973;179415972;179415971 |
| N2B | 21364 | 64315;64316;64317 | chr2:178551246;178551245;178551244 | chr2:179415973;179415972;179415971 |
| Novex-1 | 21489 | 64690;64691;64692 | chr2:178551246;178551245;178551244 | chr2:179415973;179415972;179415971 |
| Novex-2 | 21556 | 64891;64892;64893 | chr2:178551246;178551245;178551244 | chr2:179415973;179415972;179415971 |
| 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/A | rs1457717361  |
-1.826 | 1.0 | N | 0.829 | 0.488 | 0.400033932507 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.74E-05 | 0 | 0 |
| P/A | rs1457717361 |
-1.826 | 1.0 | N | 0.829 | 0.488 | 0.400033932507 | gnomAD-4.0.0 | 2.05519E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.89559E-05 | 0 | 1.79967E-06 | 0 | 0 |
| P/L | None | None | 1.0 | N | 0.88 | 0.453 | 0.55810899713 | gnomAD-4.0.0 | 6.85067E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99837E-07 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.893 | 0.561 | 0.653323239085 | gnomAD-4.0.0 | 6.85067E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99837E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7953 | likely_pathogenic | 0.8412 | pathogenic | -2.062 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.508159952 | None | None | N |
| P/C | 0.9815 | likely_pathogenic | 0.9845 | pathogenic | -2.29 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/E | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -2.713 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/F | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/G | 0.9924 | likely_pathogenic | 0.9947 | pathogenic | -2.558 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/H | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -2.221 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.543407411 | None | None | N |
| P/I | 0.9316 | likely_pathogenic | 0.9359 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -1.642 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/L | 0.8711 | likely_pathogenic | 0.8849 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.88 | deleterious | N | 0.475353305 | None | None | N |
| P/M | 0.9792 | likely_pathogenic | 0.9822 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/N | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.028 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/Q | 0.9973 | likely_pathogenic | 0.998 | pathogenic | -1.933 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/R | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.543407411 | None | None | N |
| P/S | 0.9888 | likely_pathogenic | 0.9929 | pathogenic | -2.633 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.531633032 | None | None | N |
| P/T | 0.9551 | likely_pathogenic | 0.9679 | pathogenic | -2.292 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.542900432 | None | None | N |
| P/V | 0.8132 | likely_pathogenic | 0.8262 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.892 | 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.