Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25997 | 78214;78215;78216 | chr2:178568143;178568142;178568141 | chr2:179432870;179432869;179432868 |
| N2AB | 24356 | 73291;73292;73293 | chr2:178568143;178568142;178568141 | chr2:179432870;179432869;179432868 |
| N2A | 23429 | 70510;70511;70512 | chr2:178568143;178568142;178568141 | chr2:179432870;179432869;179432868 |
| N2B | 16932 | 51019;51020;51021 | chr2:178568143;178568142;178568141 | chr2:179432870;179432869;179432868 |
| Novex-1 | 17057 | 51394;51395;51396 | chr2:178568143;178568142;178568141 | chr2:179432870;179432869;179432868 |
| Novex-2 | 17124 | 51595;51596;51597 | chr2:178568143;178568142;178568141 | chr2:179432870;179432869;179432868 |
| 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/Q | rs560308739  |
-0.619 | 1.0 | D | 0.887 | 0.504 | 0.637367032532 | 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 |
| P/Q | rs560308739 |
-0.619 | 1.0 | D | 0.887 | 0.504 | 0.637367032532 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/Q | rs560308739 |
-0.619 | 1.0 | D | 0.887 | 0.504 | 0.637367032532 | gnomAD-4.0.0 | 6.5716E-06 | None | None | None | None | N | None | 2.40709E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs560308739 |
None | 1.0 | D | 0.929 | 0.529 | 0.705395106072 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.874 | 0.463 | 0.45461005305 | gnomAD-4.0.0 | 6.84314E-07 | None | None | None | None | N | None | 0 | 2.23654E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.868 | 0.455 | 0.630199317251 | gnomAD-4.0.0 | 6.84314E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9958E-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 | 0.6109 | likely_pathogenic | 0.738 | pathogenic | -2.267 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.504209933 | None | None | N |
| P/C | 0.9305 | likely_pathogenic | 0.9519 | pathogenic | -1.884 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -2.987 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/E | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -2.722 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/F | 0.9978 | likely_pathogenic | 0.9985 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/G | 0.9833 | likely_pathogenic | 0.9909 | pathogenic | -2.813 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/H | 0.9972 | likely_pathogenic | 0.9979 | pathogenic | -2.547 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/I | 0.896 | likely_pathogenic | 0.9202 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/K | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/L | 0.8131 | likely_pathogenic | 0.8561 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.903 | deleterious | N | 0.47156787 | None | None | N |
| P/M | 0.9757 | likely_pathogenic | 0.9813 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/N | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -2.15 | Highly Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| P/Q | 0.9966 | likely_pathogenic | 0.9976 | pathogenic | -1.909 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.548674103 | None | None | N |
| P/R | 0.9967 | likely_pathogenic | 0.9976 | pathogenic | -1.64 | Destabilizing | 1.0 | D | 0.929 | deleterious | D | 0.548674103 | None | None | N |
| P/S | 0.9707 | likely_pathogenic | 0.9823 | pathogenic | -2.715 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.530480943 | None | None | N |
| P/T | 0.9333 | likely_pathogenic | 0.9587 | pathogenic | -2.305 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.548167124 | None | None | N |
| P/V | 0.7415 | likely_pathogenic | 0.8076 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.751 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.921 | 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.