Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31412 | 94459;94460;94461 | chr2:178547291;178547290;178547289 | chr2:179412018;179412017;179412016 |
| N2AB | 29771 | 89536;89537;89538 | chr2:178547291;178547290;178547289 | chr2:179412018;179412017;179412016 |
| N2A | 28844 | 86755;86756;86757 | chr2:178547291;178547290;178547289 | chr2:179412018;179412017;179412016 |
| N2B | 22347 | 67264;67265;67266 | chr2:178547291;178547290;178547289 | chr2:179412018;179412017;179412016 |
| Novex-1 | 22472 | 67639;67640;67641 | chr2:178547291;178547290;178547289 | chr2:179412018;179412017;179412016 |
| Novex-2 | 22539 | 67840;67841;67842 | chr2:178547291;178547290;178547289 | chr2:179412018;179412017;179412016 |
| 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 | rs757361681  |
-2.214 | 1.0 | D | 0.812 | 0.592 | 0.570232391912 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| P/A | rs757361681 |
-2.214 | 1.0 | D | 0.812 | 0.592 | 0.570232391912 | gnomAD-4.0.0 | 1.37288E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80339E-06 | 0 | 0 |
| P/L | rs1454161350 |
-0.69 | 1.0 | D | 0.911 | 0.614 | 0.804517166174 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1454161350 |
-0.69 | 1.0 | D | 0.911 | 0.614 | 0.804517166174 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1454161350 |
-0.69 | 1.0 | D | 0.911 | 0.614 | 0.804517166174 | gnomAD-4.0.0 | 2.57798E-06 | None | None | None | None | N | None | 3.39847E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs757361681 |
-2.789 | 1.0 | D | 0.867 | 0.606 | 0.578554888259 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| P/S | rs757361681 |
-2.789 | 1.0 | D | 0.867 | 0.606 | 0.578554888259 | gnomAD-4.0.0 | 6.86442E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01694E-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 | 0.785 | likely_pathogenic | 0.8302 | pathogenic | -2.18 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.541017323 | None | None | N |
| P/C | 0.9537 | likely_pathogenic | 0.9785 | pathogenic | -2.339 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.289 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/E | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -3.089 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/G | 0.99 | likely_pathogenic | 0.9934 | pathogenic | -2.635 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/H | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -2.178 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.564908476 | None | None | N |
| P/I | 0.9826 | likely_pathogenic | 0.9858 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| P/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.721 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/L | 0.9496 | likely_pathogenic | 0.969 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.563134049 | None | None | N |
| P/M | 0.9902 | likely_pathogenic | 0.9945 | pathogenic | -1.407 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/N | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -2.173 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/Q | 0.9969 | likely_pathogenic | 0.9975 | pathogenic | -2.068 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/R | 0.9974 | likely_pathogenic | 0.9976 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.924 | deleterious | D | 0.564401497 | None | None | N |
| P/S | 0.9772 | likely_pathogenic | 0.9846 | pathogenic | -2.673 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.546550731 | None | None | N |
| P/T | 0.9638 | likely_pathogenic | 0.9756 | pathogenic | -2.346 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.545790263 | None | None | N |
| P/V | 0.9277 | likely_pathogenic | 0.9433 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.656 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.374 | 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.