Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33776 | 101551;101552;101553 | chr2:178535289;178535288;178535287 | chr2:179400016;179400015;179400014 |
| N2AB | 32135 | 96628;96629;96630 | chr2:178535289;178535288;178535287 | chr2:179400016;179400015;179400014 |
| N2A | 31208 | 93847;93848;93849 | chr2:178535289;178535288;178535287 | chr2:179400016;179400015;179400014 |
| N2B | 24711 | 74356;74357;74358 | chr2:178535289;178535288;178535287 | chr2:179400016;179400015;179400014 |
| Novex-1 | 24836 | 74731;74732;74733 | chr2:178535289;178535288;178535287 | chr2:179400016;179400015;179400014 |
| Novex-2 | 24903 | 74932;74933;74934 | chr2:178535289;178535288;178535287 | chr2:179400016;179400015;179400014 |
| 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 | rs746665837  |
-1.556 | 0.998 | N | 0.811 | 0.295 | 0.305730143919 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| P/A | rs746665837 |
-1.556 | 0.998 | N | 0.811 | 0.295 | 0.305730143919 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/A | rs746665837 |
-1.556 | 0.998 | N | 0.811 | 0.295 | 0.305730143919 | gnomAD-4.0.0 | 5.57713E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78048E-06 | 0 | 1.60092E-05 |
| P/L | rs536357517 |
-0.603 | 1.0 | N | 0.83 | 0.335 | 0.677900743141 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 1.29182E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs536357517 |
-0.603 | 1.0 | N | 0.83 | 0.335 | 0.677900743141 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs536357517 |
-0.603 | 1.0 | N | 0.83 | 0.335 | 0.677900743141 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/L | rs536357517 |
-0.603 | 1.0 | N | 0.83 | 0.335 | 0.677900743141 | gnomAD-4.0.0 | 3.71775E-06 | None | None | None | None | N | None | 7.99595E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0806 | likely_benign | 0.0814 | benign | -1.372 | Destabilizing | 0.998 | D | 0.811 | deleterious | N | 0.493356645 | None | None | N |
| P/C | 0.6828 | likely_pathogenic | 0.7083 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| P/D | 0.761 | likely_pathogenic | 0.79 | pathogenic | -0.992 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| P/E | 0.5375 | ambiguous | 0.5802 | pathogenic | -1.024 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| P/F | 0.7125 | likely_pathogenic | 0.7526 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/G | 0.5248 | ambiguous | 0.587 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/H | 0.4964 | ambiguous | 0.5357 | ambiguous | -1.143 | Destabilizing | 1.0 | D | 0.848 | deleterious | N | 0.480188011 | None | None | N |
| P/I | 0.3346 | likely_benign | 0.358 | ambiguous | -0.725 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/K | 0.5766 | likely_pathogenic | 0.6592 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/L | 0.1984 | likely_benign | 0.2155 | benign | -0.725 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.516694864 | None | None | N |
| P/M | 0.4557 | ambiguous | 0.4773 | ambiguous | -0.508 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/N | 0.6081 | likely_pathogenic | 0.6418 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/Q | 0.3646 | ambiguous | 0.3945 | ambiguous | -0.963 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/R | 0.4565 | ambiguous | 0.5109 | ambiguous | -0.466 | Destabilizing | 1.0 | D | 0.901 | deleterious | N | 0.499431129 | None | None | N |
| P/S | 0.209 | likely_benign | 0.2242 | benign | -1.259 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.499186539 | None | None | N |
| P/T | 0.1517 | likely_benign | 0.1583 | benign | -1.184 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.473597448 | None | None | N |
| P/V | 0.2333 | likely_benign | 0.2493 | benign | -0.905 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/W | 0.8916 | likely_pathogenic | 0.9091 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/Y | 0.7178 | likely_pathogenic | 0.7562 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.897 | 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.