Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1520 | 4783;4784;4785 | chr2:178777507;178777506;178777505 | chr2:179642234;179642233;179642232 |
| N2AB | 1520 | 4783;4784;4785 | chr2:178777507;178777506;178777505 | chr2:179642234;179642233;179642232 |
| N2A | 1520 | 4783;4784;4785 | chr2:178777507;178777506;178777505 | chr2:179642234;179642233;179642232 |
| N2B | 1474 | 4645;4646;4647 | chr2:178777507;178777506;178777505 | chr2:179642234;179642233;179642232 |
| Novex-1 | 1474 | 4645;4646;4647 | chr2:178777507;178777506;178777505 | chr2:179642234;179642233;179642232 |
| Novex-2 | 1474 | 4645;4646;4647 | chr2:178777507;178777506;178777505 | chr2:179642234;179642233;179642232 |
| Novex-3 | 1520 | 4783;4784;4785 | chr2:178777507;178777506;178777505 | chr2:179642234;179642233;179642232 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1060500440  |
-1.512 | 0.032 | N | 0.379 | 0.184 | 0.294918367191 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1060500440 |
-1.512 | 0.032 | N | 0.379 | 0.184 | 0.294918367191 | 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 |
| A/T | rs1060500440 |
-1.512 | 0.032 | N | 0.379 | 0.184 | 0.294918367191 | gnomAD-4.0.0 | 9.91505E-06 | None | None | None | None | N | None | 1.33508E-05 | 1.66722E-05 | None | 0 | 0 | None | 0 | 0 | 1.18652E-05 | 0 | 0 |
| A/V | None | None | 0.032 | N | 0.383 | 0.212 | 0.286848849266 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93751E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7105 | likely_pathogenic | 0.6848 | pathogenic | -1.584 | Destabilizing | 0.998 | D | 0.697 | prob.neutral | None | None | None | None | N |
| A/D | 0.9868 | likely_pathogenic | 0.9884 | pathogenic | -2.896 | Highly Destabilizing | 0.942 | D | 0.713 | prob.delet. | D | 0.742180876 | None | None | N |
| A/E | 0.9766 | likely_pathogenic | 0.9783 | pathogenic | -2.831 | Highly Destabilizing | 0.956 | D | 0.707 | prob.neutral | None | None | None | None | N |
| A/F | 0.9626 | likely_pathogenic | 0.965 | pathogenic | -1.065 | Destabilizing | 0.956 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/G | 0.4929 | ambiguous | 0.5129 | ambiguous | -1.57 | Destabilizing | 0.822 | D | 0.566 | neutral | D | 0.666577909 | None | None | N |
| A/H | 0.991 | likely_pathogenic | 0.9915 | pathogenic | -1.68 | Destabilizing | 0.998 | D | 0.707 | prob.neutral | None | None | None | None | N |
| A/I | 0.6365 | likely_pathogenic | 0.6436 | pathogenic | -0.454 | Destabilizing | 0.514 | D | 0.659 | neutral | None | None | None | None | N |
| A/K | 0.9933 | likely_pathogenic | 0.994 | pathogenic | -1.531 | Destabilizing | 0.956 | D | 0.707 | prob.neutral | None | None | None | None | N |
| A/L | 0.5985 | likely_pathogenic | 0.6067 | pathogenic | -0.454 | Destabilizing | 0.754 | D | 0.551 | neutral | None | None | None | None | N |
| A/M | 0.6856 | likely_pathogenic | 0.699 | pathogenic | -0.6 | Destabilizing | 0.988 | D | 0.716 | prob.delet. | None | None | None | None | N |
| A/N | 0.9491 | likely_pathogenic | 0.9523 | pathogenic | -1.671 | Destabilizing | 0.956 | D | 0.705 | prob.neutral | None | None | None | None | N |
| A/P | 0.8627 | likely_pathogenic | 0.8761 | pathogenic | -0.681 | Destabilizing | 0.971 | D | 0.725 | prob.delet. | D | 0.614824702 | None | None | N |
| A/Q | 0.9717 | likely_pathogenic | 0.9733 | pathogenic | -1.746 | Destabilizing | 0.978 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/R | 0.9838 | likely_pathogenic | 0.9857 | pathogenic | -1.264 | Destabilizing | 0.956 | D | 0.718 | prob.delet. | None | None | None | None | N |
| A/S | 0.2335 | likely_benign | 0.2451 | benign | -1.926 | Destabilizing | 0.698 | D | 0.529 | neutral | D | 0.588311901 | None | None | N |
| A/T | 0.1481 | likely_benign | 0.1557 | benign | -1.778 | Destabilizing | 0.032 | N | 0.379 | neutral | N | 0.511153951 | None | None | N |
| A/V | 0.2327 | likely_benign | 0.2353 | benign | -0.681 | Destabilizing | 0.032 | N | 0.383 | neutral | N | 0.466115887 | None | None | N |
| A/W | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -1.602 | Destabilizing | 0.998 | D | 0.693 | prob.neutral | None | None | None | None | N |
| A/Y | 0.9906 | likely_pathogenic | 0.9913 | pathogenic | -1.187 | Destabilizing | 0.978 | D | 0.726 | 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.