Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 131 | 616;617;618 | chr2:178800587;178800586;178800585 | chr2:179665314;179665313;179665312 |
| N2AB | 131 | 616;617;618 | chr2:178800587;178800586;178800585 | chr2:179665314;179665313;179665312 |
| N2A | 131 | 616;617;618 | chr2:178800587;178800586;178800585 | chr2:179665314;179665313;179665312 |
| N2B | 131 | 616;617;618 | chr2:178800587;178800586;178800585 | chr2:179665314;179665313;179665312 |
| Novex-1 | 131 | 616;617;618 | chr2:178800587;178800586;178800585 | chr2:179665314;179665313;179665312 |
| Novex-2 | 131 | 616;617;618 | chr2:178800587;178800586;178800585 | chr2:179665314;179665313;179665312 |
| Novex-3 | 131 | 616;617;618 | chr2:178800587;178800586;178800585 | chr2:179665314;179665313;179665312 |
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 | rs781001961  |
-0.417 | 1.0 | D | 0.757 | 0.659 | 0.890570975953 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.645(TCAP) | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs781001961 |
-0.417 | 1.0 | D | 0.757 | 0.659 | 0.890570975953 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | -0.645(TCAP) | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs781001961 |
-0.417 | 1.0 | D | 0.757 | 0.659 | 0.890570975953 | gnomAD-4.0.0 | 1.97114E-05 | None | None | None | -0.645(TCAP) | N | None | 7.23798E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs747867752 |
-1.096 | 1.0 | D | 0.747 | 0.718 | 0.606623169391 | gnomAD-2.1.1 | 1.19E-05 | None | None | None | -0.279(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| P/S | rs747867752 |
-1.096 | 1.0 | D | 0.747 | 0.718 | 0.606623169391 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.279(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| P/S | rs747867752 |
-1.096 | 1.0 | D | 0.747 | 0.718 | 0.606623169391 | gnomAD-4.0.0 | 6.19567E-06 | None | None | None | -0.279(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09823E-04 | 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 | 0.7478 | likely_pathogenic | 0.8576 | pathogenic | -0.725 | Destabilizing | 0.997 | D | 0.744 | deleterious | D | 0.789927294 | None | -0.472(TCAP) | N |
| P/C | 0.9951 | likely_pathogenic | 0.9976 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | -0.429(TCAP) | N |
| P/D | 0.9627 | likely_pathogenic | 0.9773 | pathogenic | -0.401 | Destabilizing | 0.997 | D | 0.744 | deleterious | None | None | None | -0.833(TCAP) | N |
| P/E | 0.9242 | likely_pathogenic | 0.9552 | pathogenic | -0.507 | Destabilizing | 0.998 | D | 0.748 | deleterious | None | None | None | -0.969(TCAP) | N |
| P/F | 0.996 | likely_pathogenic | 0.998 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | 0.074(TCAP) | N |
| P/G | 0.932 | likely_pathogenic | 0.9627 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | -0.43(TCAP) | N |
| P/H | 0.9659 | likely_pathogenic | 0.9813 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.859466487 | None | -0.051(TCAP) | N |
| P/I | 0.9729 | likely_pathogenic | 0.9868 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | -0.645(TCAP) | N |
| P/K | 0.9719 | likely_pathogenic | 0.9835 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | -0.974(TCAP) | N |
| P/L | 0.8817 | likely_pathogenic | 0.9313 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.825804205 | None | -0.645(TCAP) | N |
| P/M | 0.9802 | likely_pathogenic | 0.9902 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | -0.461(TCAP) | N |
| P/N | 0.9676 | likely_pathogenic | 0.9822 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | -0.672(TCAP) | N |
| P/Q | 0.903 | likely_pathogenic | 0.9485 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | -0.644(TCAP) | N |
| P/R | 0.9201 | likely_pathogenic | 0.9538 | pathogenic | -0.059 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.775698015 | None | -1.2(TCAP) | N |
| P/S | 0.8712 | likely_pathogenic | 0.9313 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.774040641 | None | -0.279(TCAP) | N |
| P/T | 0.8608 | likely_pathogenic | 0.9237 | pathogenic | -0.732 | Destabilizing | 0.999 | D | 0.746 | deleterious | D | 0.775698015 | None | -0.388(TCAP) | N |
| P/V | 0.9379 | likely_pathogenic | 0.9678 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | -0.58(TCAP) | N |
| P/W | 0.9977 | likely_pathogenic | 0.9987 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | 0.011(TCAP) | N |
| P/Y | 0.9935 | likely_pathogenic | 0.9965 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | 0.028(TCAP) | 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.