Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15103 | 45532;45533;45534 | chr2:178621517;178621516;178621515 | chr2:179486244;179486243;179486242 |
| N2AB | 13462 | 40609;40610;40611 | chr2:178621517;178621516;178621515 | chr2:179486244;179486243;179486242 |
| N2A | 12535 | 37828;37829;37830 | chr2:178621517;178621516;178621515 | chr2:179486244;179486243;179486242 |
| N2B | 6038 | 18337;18338;18339 | chr2:178621517;178621516;178621515 | chr2:179486244;179486243;179486242 |
| Novex-1 | 6163 | 18712;18713;18714 | chr2:178621517;178621516;178621515 | chr2:179486244;179486243;179486242 |
| Novex-2 | 6230 | 18913;18914;18915 | chr2:178621517;178621516;178621515 | chr2:179486244;179486243;179486242 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 0.956 | D | 0.685 | 0.394 | 0.582989276457 | gnomAD-4.0.0 | 6.84742E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99952E-07 | 0 | 0 |
| R/L | rs771113343  |
None | 0.956 | N | 0.685 | 0.331 | 0.610115391599 | gnomAD-4.0.0 | 1.5941E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78505E-05 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs771113343 |
-0.45 | 0.994 | N | 0.693 | 0.235 | 0.24896430686 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/Q | rs771113343 |
-0.45 | 0.994 | N | 0.693 | 0.235 | 0.24896430686 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.84E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs771113343 |
-0.45 | 0.994 | N | 0.693 | 0.235 | 0.24896430686 | gnomAD-4.0.0 | 5.13373E-06 | None | None | None | None | N | None | 5.0863E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39707E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.457 | ambiguous | 0.3699 | ambiguous | -1.475 | Destabilizing | 0.919 | D | 0.688 | prob.neutral | None | None | None | None | N |
| R/C | 0.1722 | likely_benign | 0.142 | benign | -1.446 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | None | None | None | None | N |
| R/D | 0.8167 | likely_pathogenic | 0.7332 | pathogenic | -0.463 | Destabilizing | 0.976 | D | 0.691 | prob.neutral | None | None | None | None | N |
| R/E | 0.4132 | ambiguous | 0.3408 | ambiguous | -0.289 | Destabilizing | 0.851 | D | 0.665 | neutral | None | None | None | None | N |
| R/F | 0.5182 | ambiguous | 0.4309 | ambiguous | -1.01 | Destabilizing | 0.996 | D | 0.712 | prob.delet. | None | None | None | None | N |
| R/G | 0.4121 | ambiguous | 0.3175 | benign | -1.828 | Destabilizing | 0.956 | D | 0.685 | prob.neutral | D | 0.547218992 | None | None | N |
| R/H | 0.1089 | likely_benign | 0.0915 | benign | -1.907 | Destabilizing | 0.996 | D | 0.673 | neutral | None | None | None | None | N |
| R/I | 0.1886 | likely_benign | 0.1522 | benign | -0.488 | Destabilizing | 0.988 | D | 0.712 | prob.delet. | None | None | None | None | N |
| R/K | 0.1192 | likely_benign | 0.1034 | benign | -1.354 | Destabilizing | 0.015 | N | 0.313 | neutral | None | None | None | None | N |
| R/L | 0.2425 | likely_benign | 0.1915 | benign | -0.488 | Destabilizing | 0.956 | D | 0.685 | prob.neutral | N | 0.499765485 | None | None | N |
| R/M | 0.2642 | likely_benign | 0.2154 | benign | -0.854 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| R/N | 0.6499 | likely_pathogenic | 0.5484 | ambiguous | -0.962 | Destabilizing | 0.976 | D | 0.677 | prob.neutral | None | None | None | None | N |
| R/P | 0.9635 | likely_pathogenic | 0.9406 | pathogenic | -0.8 | Destabilizing | 0.994 | D | 0.725 | prob.delet. | D | 0.652847148 | None | None | N |
| R/Q | 0.0998 | likely_benign | 0.0892 | benign | -1.014 | Destabilizing | 0.994 | D | 0.693 | prob.neutral | N | 0.501873056 | None | None | N |
| R/S | 0.487 | ambiguous | 0.3903 | ambiguous | -1.865 | Destabilizing | 0.919 | D | 0.685 | prob.neutral | None | None | None | None | N |
| R/T | 0.2539 | likely_benign | 0.1955 | benign | -1.484 | Destabilizing | 0.919 | D | 0.694 | prob.neutral | None | None | None | None | N |
| R/V | 0.2934 | likely_benign | 0.2469 | benign | -0.8 | Destabilizing | 0.988 | D | 0.715 | prob.delet. | None | None | None | None | N |
| R/W | 0.2173 | likely_benign | 0.1755 | benign | -0.523 | Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| R/Y | 0.4008 | ambiguous | 0.3249 | benign | -0.312 | Destabilizing | 0.996 | D | 0.723 | prob.delet. | 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.