Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17281 | 52066;52067;52068 | chr2:178609469;178609468;178609467 | chr2:179474196;179474195;179474194 |
| N2AB | 15640 | 47143;47144;47145 | chr2:178609469;178609468;178609467 | chr2:179474196;179474195;179474194 |
| N2A | 14713 | 44362;44363;44364 | chr2:178609469;178609468;178609467 | chr2:179474196;179474195;179474194 |
| N2B | 8216 | 24871;24872;24873 | chr2:178609469;178609468;178609467 | chr2:179474196;179474195;179474194 |
| Novex-1 | 8341 | 25246;25247;25248 | chr2:178609469;178609468;178609467 | chr2:179474196;179474195;179474194 |
| Novex-2 | 8408 | 25447;25448;25449 | chr2:178609469;178609468;178609467 | chr2:179474196;179474195;179474194 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | None | None | 1.0 | D | 0.901 | 0.933 | 0.918551706158 | gnomAD-4.0.0 | 6.84709E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99913E-07 | 0 | 0 |
| W/R | rs368846015  |
-1.912 | 1.0 | D | 0.946 | 0.945 | 0.944061380706 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 1.29433E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/R | rs368846015 |
-1.912 | 1.0 | D | 0.946 | 0.945 | 0.944061380706 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20954E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs368846015 |
-1.912 | 1.0 | D | 0.946 | 0.945 | 0.944061380706 | gnomAD-4.0.0 | 6.82276E-06 | None | None | None | None | N | None | 9.36555E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.41293E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.998 | likely_pathogenic | 0.9972 | pathogenic | -2.587 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| W/C | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.922 | deleterious | D | 0.668705084 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.203 | Highly Destabilizing | 1.0 | D | 0.945 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -3.063 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| W/F | 0.7081 | likely_pathogenic | 0.6824 | pathogenic | -1.642 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/G | 0.9946 | likely_pathogenic | 0.9929 | pathogenic | -2.85 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.668503279 | None | None | N |
| W/H | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -2.316 | Highly Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| W/I | 0.9822 | likely_pathogenic | 0.9772 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.94 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.465 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| W/L | 0.964 | likely_pathogenic | 0.9552 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.668503279 | None | None | N |
| W/M | 0.9934 | likely_pathogenic | 0.9916 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.271 | Highly Destabilizing | 1.0 | D | 0.949 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.951 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.952 | Highly Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.556 | Highly Destabilizing | 1.0 | D | 0.946 | deleterious | D | 0.668705084 | None | None | N |
| W/S | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -3.331 | Highly Destabilizing | 1.0 | D | 0.928 | deleterious | D | 0.668705084 | None | None | N |
| W/T | 0.9986 | likely_pathogenic | 0.998 | pathogenic | -3.107 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| W/V | 0.9874 | likely_pathogenic | 0.984 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| W/Y | 0.9388 | likely_pathogenic | 0.9263 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.83 | 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.