Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35943 | 108052;108053;108054 | chr2:178527161;178527160;178527159 | chr2:179391888;179391887;179391886 |
| N2AB | 34302 | 103129;103130;103131 | chr2:178527161;178527160;178527159 | chr2:179391888;179391887;179391886 |
| N2A | 33375 | 100348;100349;100350 | chr2:178527161;178527160;178527159 | chr2:179391888;179391887;179391886 |
| N2B | 26878 | 80857;80858;80859 | chr2:178527161;178527160;178527159 | chr2:179391888;179391887;179391886 |
| Novex-1 | 27003 | 81232;81233;81234 | chr2:178527161;178527160;178527159 | chr2:179391888;179391887;179391886 |
| Novex-2 | 27070 | 81433;81434;81435 | chr2:178527161;178527160;178527159 | chr2:179391888;179391887;179391886 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 1.0 | N | 0.684 | 0.41 | 0.292423486923 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | -2.046(OBSL1) -0.21(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2301 | likely_benign | 0.2407 | benign | -0.269 | Destabilizing | 1.0 | D | 0.524 | neutral | N | 0.505637217 | None | -0.544(OBSL1) -0.283(OBSCN) | N |
| G/C | 0.4335 | ambiguous | 0.4371 | ambiguous | -0.713 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | -1.176(OBSL1) 0.256(OBSCN) | N |
| G/D | 0.2306 | likely_benign | 0.2457 | benign | -0.785 | Destabilizing | 0.921 | D | 0.498 | neutral | None | None | None | -1.873(OBSL1) -0.126(OBSCN) | N |
| G/E | 0.2556 | likely_benign | 0.2679 | benign | -0.945 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | N | 0.470484493 | None | -2.046(OBSL1) -0.21(OBSCN) | N |
| G/F | 0.7912 | likely_pathogenic | 0.7921 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | -0.561(OBSL1) 0.497(OBSCN) | N |
| G/H | 0.5502 | ambiguous | 0.566 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | -0.52(OBSL1) 0.561(OBSCN) | N |
| G/I | 0.5514 | ambiguous | 0.5396 | ambiguous | -0.359 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | -0.971(OBSL1) -0.249(OBSCN) | N |
| G/K | 0.5184 | ambiguous | 0.532 | ambiguous | -0.912 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | -1.68(OBSL1) -0.19(OBSCN) | N |
| G/L | 0.6419 | likely_pathogenic | 0.6503 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | -0.971(OBSL1) -0.249(OBSCN) | N |
| G/M | 0.6931 | likely_pathogenic | 0.6929 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | -0.951(OBSL1) 0.078(OBSCN) | N |
| G/N | 0.3439 | ambiguous | 0.3631 | ambiguous | -0.424 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | -1.087(OBSL1) -0.137(OBSCN) | N |
| G/P | 0.7713 | likely_pathogenic | 0.7997 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | -0.821(OBSL1) -0.255(OBSCN) | N |
| G/Q | 0.4257 | ambiguous | 0.4502 | ambiguous | -0.731 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | -1.255(OBSL1) -0.031(OBSCN) | N |
| G/R | 0.4169 | ambiguous | 0.4312 | ambiguous | -0.443 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.496383015 | None | -1.788(OBSL1) -0.555(OBSCN) | N |
| G/S | 0.1443 | likely_benign | 0.15 | benign | -0.529 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | -0.641(OBSL1) 0.109(OBSCN) | N |
| G/T | 0.3247 | likely_benign | 0.3314 | benign | -0.628 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | -0.831(OBSL1) 0.067(OBSCN) | N |
| G/V | 0.3893 | ambiguous | 0.3843 | ambiguous | -0.295 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.476584754 | None | -0.821(OBSL1) -0.255(OBSCN) | N |
| G/W | 0.6196 | likely_pathogenic | 0.6063 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.4918154 | None | -0.787(OBSL1) 0.532(OBSCN) | N |
| G/Y | 0.6149 | likely_pathogenic | 0.6243 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | -0.509(OBSL1) 0.547(OBSCN) | 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.