Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15652 | 47179;47180;47181 | chr2:178618596;178618595;178618594 | chr2:179483323;179483322;179483321 |
| N2AB | 14011 | 42256;42257;42258 | chr2:178618596;178618595;178618594 | chr2:179483323;179483322;179483321 |
| N2A | 13084 | 39475;39476;39477 | chr2:178618596;178618595;178618594 | chr2:179483323;179483322;179483321 |
| N2B | 6587 | 19984;19985;19986 | chr2:178618596;178618595;178618594 | chr2:179483323;179483322;179483321 |
| Novex-1 | 6712 | 20359;20360;20361 | chr2:178618596;178618595;178618594 | chr2:179483323;179483322;179483321 |
| Novex-2 | 6779 | 20560;20561;20562 | chr2:178618596;178618595;178618594 | chr2:179483323;179483322;179483321 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/S | rs1203067813  |
-3.557 | 0.946 | N | 0.846 | 0.578 | 0.780149587643 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/S | rs1203067813 |
-3.557 | 0.946 | N | 0.846 | 0.578 | 0.780149587643 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/S | rs1203067813 |
-3.557 | 0.946 | N | 0.846 | 0.578 | 0.780149587643 | gnomAD-4.0.0 | 6.58215E-06 | None | None | None | None | N | None | 2.41499E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs770057187 |
-1.385 | 0.016 | N | 0.305 | 0.087 | 0.296679040009 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs770057187 |
-1.385 | 0.016 | N | 0.305 | 0.087 | 0.296679040009 | gnomAD-4.0.0 | 1.59568E-06 | None | None | None | None | N | None | 0 | 2.29568E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.7549 | likely_pathogenic | 0.8047 | pathogenic | -2.846 | Highly Destabilizing | 0.769 | D | 0.633 | neutral | None | None | None | None | N |
| L/C | 0.748 | likely_pathogenic | 0.7953 | pathogenic | -2.028 | Highly Destabilizing | 0.994 | D | 0.812 | deleterious | None | None | None | None | N |
| L/D | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -3.389 | Highly Destabilizing | 0.979 | D | 0.862 | deleterious | None | None | None | None | N |
| L/E | 0.9849 | likely_pathogenic | 0.9849 | pathogenic | -3.157 | Highly Destabilizing | 0.979 | D | 0.865 | deleterious | None | None | None | None | N |
| L/F | 0.5738 | likely_pathogenic | 0.658 | pathogenic | -1.754 | Destabilizing | 0.946 | D | 0.801 | deleterious | N | 0.497637536 | None | None | N |
| L/G | 0.957 | likely_pathogenic | 0.9653 | pathogenic | -3.396 | Highly Destabilizing | 0.979 | D | 0.863 | deleterious | None | None | None | None | N |
| L/H | 0.9702 | likely_pathogenic | 0.9774 | pathogenic | -2.878 | Highly Destabilizing | 0.998 | D | 0.852 | deleterious | None | None | None | None | N |
| L/I | 0.0812 | likely_benign | 0.1044 | benign | -1.238 | Destabilizing | 0.263 | N | 0.586 | neutral | N | 0.492560812 | None | None | N |
| L/K | 0.9821 | likely_pathogenic | 0.9784 | pathogenic | -2.363 | Highly Destabilizing | 0.979 | D | 0.851 | deleterious | None | None | None | None | N |
| L/M | 0.2333 | likely_benign | 0.2751 | benign | -1.069 | Destabilizing | 0.959 | D | 0.782 | deleterious | None | None | None | None | N |
| L/N | 0.9817 | likely_pathogenic | 0.9823 | pathogenic | -2.728 | Highly Destabilizing | 0.993 | D | 0.863 | deleterious | None | None | None | None | N |
| L/P | 0.985 | likely_pathogenic | 0.9858 | pathogenic | -1.758 | Destabilizing | 0.993 | D | 0.861 | deleterious | None | None | None | None | N |
| L/Q | 0.9502 | likely_pathogenic | 0.9547 | pathogenic | -2.589 | Highly Destabilizing | 0.993 | D | 0.855 | deleterious | None | None | None | None | N |
| L/R | 0.9649 | likely_pathogenic | 0.9625 | pathogenic | -1.996 | Destabilizing | 0.979 | D | 0.852 | deleterious | None | None | None | None | N |
| L/S | 0.9553 | likely_pathogenic | 0.9686 | pathogenic | -3.379 | Highly Destabilizing | 0.946 | D | 0.846 | deleterious | N | 0.499977892 | None | None | N |
| L/T | 0.7485 | likely_pathogenic | 0.7999 | pathogenic | -3.007 | Highly Destabilizing | 0.959 | D | 0.783 | deleterious | None | None | None | None | N |
| L/V | 0.0689 | likely_benign | 0.0931 | benign | -1.758 | Destabilizing | 0.016 | N | 0.305 | neutral | N | 0.421210186 | None | None | N |
| L/W | 0.944 | likely_pathogenic | 0.9568 | pathogenic | -2.224 | Highly Destabilizing | 0.998 | D | 0.826 | deleterious | None | None | None | None | N |
| L/Y | 0.9402 | likely_pathogenic | 0.9526 | pathogenic | -1.964 | Destabilizing | 0.979 | D | 0.817 | 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.